KRT1 (Keratin, type II cytoskeletal 1) variants and mutations
KRT1 (also known as Keratin, type II cytoskeletal 1) is a human protein-coding gene encoding a keratin, type II cytoskeletal 1 protein. It pairs with keratin 10 to provide mechanical resilience to suprabasal epidermal cells and help maintain the skin barrier. Dominant pathogenic variants cause epidermolytic ichthyosis and related palmoplantar keratoderma phenotypes. This analysis covers 1,162 KRT1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes epidermolytic ichthyosis, diffuse nonepidermolytic palmoplantar keratoderma, and Non-epidermolytic palmoplantar keratoderma. Example KRT1 variants include S2N, R3Q, and Q4E.
Variant analysis overview
- Gene: KRT1
- Protein: Keratin, type II cytoskeletal 1
- UniProt accession: P04264
- Organism: Homo sapiens
- Variants analyzed: 1162
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 845 unspecified-consequence records; 123 missense variants; 122 synonymous variants; 5 stop-gained variants; 31 frameshift variants; 26 in-frame deletions; 7 in-frame insertions; 3 splice-region variants; 1 substitution
- Prediction scores: 914 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: epidermolytic ichthyosis, diffuse nonepidermolytic palmoplantar keratoderma, Non-epidermolytic palmoplantar keratoderma, ichthyosis hystrix of Curth-Macklin, epidermolytic palmoplantar keratoderma, 1, annular epidermolytic ichthyosis, Nonepidermolytic palmoplantar hyperkeratosis, ichthyosis, annular epidermolytic 1, keratosis palmoplantaris striata 3, Palmoplantar keratoderma, hereditary palmoplantar keratoderma, palmoplantar keratoderma, epidermolytic, 2.
Protein structure and variant hotspots
- Protein features: 1 domains; 10 post-translational modification sites.
- Structural context: 470 variants have structural context.
- PTM context: 16 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable KRT1 variants
Examples include S2N, R3Q, Q4E, Q4R, F5S, S6N, S7F, S9P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2N (p.Ser2Asn), Ensembl rs1941568181
- R3Q (p.Arg3Gln), rs775323304, NCI-TCGA Cosmic COSV5286, ExAC rs775323304, TOPMed rs775323304, REVEL 0.11, CADD 21.10, Variant assessed as somatic; moderate impact.
- Q4E (p.Gln4Glu), rs201712128, ClinGen CA6586525, ClinVar RCV002914780, ExAC rs201712128, REVEL 0.16, CADD 16.30, Benign, not provided
- Q4R (p.Gln4Arg), ExAC rs745702313, gnomAD rs745702313, REVEL 0.08, CADD 17.50
- F5S (p.Phe5Ser), gnomAD rs1165231759, REVEL 0.08, CADD 19.60
- S6N (p.Ser6Asn), ExAC rs776478134, gnomAD rs776478134, REVEL 0.16, CADD 17.10
- S7F (p.Ser7Phe), rs1941567848, ClinGen CA384977277, ClinVar RCV003391849, TOPMed rs1941567848, AlphaMissense 0.36, MetaLR 0.44, Uncertain significance, not provided
- S9P (p.Ser9Pro), TOPMed rs1469267818, REVEL 0.31, CADD 23.00
- S9Y (p.Ser9Tyr), ExAC rs770778354, gnomAD rs770778354, REVEL 0.30, CADD 19.80
- G10R (p.Gly10Arg), gnomAD rs1470858408, REVEL 0.24, CADD 16.50
- Y11D (p.Tyr11Asp), Ensembl rs1941567714
- Y11F (p.Tyr11Phe), gnomAD rs1233125189, REVEL 0.14, CADD 9.12
- Y11N (p.Tyr11Asn), Ensembl rs1941567714
- R12* (p.Arg12Ter), gnomAD rs1197654607, CADD 36.00
- R12Q (p.Arg12Gln), 1000Genomes rs747243738, ExAC rs747243738, TOPMed rs747243738, gnomAD rs747243738, REVEL 0.16, CADD 17.00
- S13R (p.Ser13Arg), gnomAD rs1288256987, REVEL 0.21, CADD 6.85
- G14E (p.Gly14Glu), NCI-TCGA Cosmic COSV5287, Variant assessed as somatic; moderate impact.
- G16C (p.Gly16Cys), NCI-TCGA Cosmic COSV5286, Variant assessed as somatic; moderate impact.
- G16D (p.Gly16Asp), TOPMed rs1285894552, gnomAD rs1285894552, REVEL 0.37, CADD 18.80
- G16S (p.Gly16Ser), ExAC rs748686918, gnomAD rs748686918, REVEL 0.15, CADD 15.20
- G16V (p.Gly16Val), TOPMed rs1285894552, gnomAD rs1285894552, REVEL 0.38, CADD 22.30
- F17L (p.Phe17Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G20C (p.Gly20Cys), NCI-TCGA Cosmic COSV5286, REVEL 0.13, CADD 15.80, Variant assessed as somatic; moderate impact.
- G20D (p.Gly20Asp), ESP rs368821072, ExAC rs368821072, TOPMed rs368821072, gnomAD rs368821072, REVEL 0.44, CADD 17.40
- G20S (p.Gly20Ser), TOPMed rs1398806309, gnomAD rs1398806309, REVEL 0.11, CADD 15.30
- S21F (p.Ser21Phe), NCI-TCGA TCGA novel, REVEL 0.48, CADD 24.20, Variant assessed as somatic; moderate impact.
- A22P (p.Ala22Pro), TOPMed rs1284370870, gnomAD rs1284370870, REVEL 0.47, CADD 23.80
- G23E (p.Gly23Glu), NCI-TCGA TCGA novel, Ensembl rs1941567191, REVEL 0.38, CADD 21.30, Variant assessed as somatic; moderate impact.
- I24V (p.Ile24Val), TOPMed rs1941567149
- Q28K (p.Gln28Lys), ESP rs146155769, ExAC rs146155769, TOPMed rs146155769, gnomAD rs146155769, REVEL 0.14, AlphaMissense 0.46
- Q28L (p.Gln28Leu), 1000Genomes rs536680291, ExAC rs536680291, gnomAD rs536680291, REVEL 0.14, CADD 10.90, Uncertain significance
- Q28R (p.Gln28Arg), rs536680291, ClinGen CA384977016, ClinVar RCV003219671, 1000Genomes rs536680291, REVEL 0.12, CADD 7.64, Uncertain significance, Inborn genetic diseases
- R29C (p.Arg29Cys), ExAC rs201494492, TOPMed rs201494492, gnomAD rs201494492, REVEL 0.45, CADD 22.60
- R29H (p.Arg29His), ExAC rs752232489, TOPMed rs752232489, gnomAD rs752232489, REVEL 0.34, CADD 20.30, Uncertain significance, Inborn genetic diseases
- R29L (p.Arg29Leu), ExAC rs752232489, TOPMed rs752232489, gnomAD rs752232489, REVEL 0.39, CADD 19.30
- R29P (p.Arg29Pro), ExAC rs752232489, TOPMed rs752232489, gnomAD rs752232489, REVEL 0.50, CADD 20.50
- R29S (p.Arg29Ser), ExAC rs201494492, TOPMed rs201494492, gnomAD rs201494492, REVEL 0.11, CADD 16.10
- R30K (p.Arg30Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R30M (p.Arg30Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R30S (p.Arg30Ser), TOPMed rs1190118432, gnomAD rs1190118432, NCI-TCGA Cosmic COSV5286, NCI-TCGA Cosmic COSV9935, REVEL 0.24, AlphaMissense 0.41, Variant assessed as somatic; moderate impact.
- R30T (p.Arg30Thr), ExAC rs765150249, gnomAD rs765150249, REVEL 0.26, AlphaMissense 0.71
- S33R (p.Ser33Arg), NCI-TCGA Cosmic COSV5286, NCI-TCGA Cosmic COSV9935, Variant assessed as somatic; moderate impact.
- S35F (p.Ser35Phe), ExAC rs776371326, gnomAD rs776371326, REVEL 0.39, CADD 22.50
- S35T (p.Ser35Thr), ExAC rs759518011, gnomAD rs759518011, REVEL 0.25, CADD 17.20
- S35Y (p.Ser35Tyr), ExAC rs776371326, gnomAD rs776371326, REVEL 0.33, CADD 22.20
- T36A (p.Thr36Ala), rs770868243, ClinGen CA6586503, ClinVar RCV003847296, ExAC rs770868243, REVEL 0.13, CADD 0.14, Uncertain significance, not provided
- T36I (p.Thr36Ile), ExAC rs760503522, gnomAD rs760503522
- R37C (p.Arg37Cys), ExAC rs769301639, TOPMed rs769301639, gnomAD rs769301639, REVEL 0.21, CADD 21.80
- R37G (p.Arg37Gly), ExAC rs769301639, TOPMed rs769301639, gnomAD rs769301639
- R37H (p.Arg37His), ExAC rs780600291, TOPMed rs780600291, gnomAD rs780600291, REVEL 0.41, CADD 22.40, Uncertain significance, Inborn genetic diseases
- R37P (p.Arg37Pro), ExAC rs780600291, TOPMed rs780600291, gnomAD rs780600291, REVEL 0.41, CADD 22.80, Uncertain significance
- R37S (p.Arg37Ser), ExAC rs769301639, TOPMed rs769301639, gnomAD rs769301639, REVEL 0.10, AlphaMissense 0.23
- R38C (p.Arg38Cys), rs779045977, NCI-TCGA Cosmic COSV5286, ExAC rs779045977, TOPMed rs779045977, REVEL 0.41, CADD 25.10, Uncertain significance, Inborn genetic diseases
- R38H (p.Arg38His), rs34787940, ClinGen CA6586497, ClinVar RCV000282510, ClinVar RCV000318815, REVEL 0.09, CADD 16.90, Benign/Likely benign, not specified; not provided; Epidermolytic ichthyosis
- S39I (p.Ser39Ile), NCI-TCGA Cosmic COSV5286, Variant assessed as somatic; moderate impact.
- G40R (p.Gly40Arg), gnomAD rs1941566032, REVEL 0.29, CADD 19.60
- G41E (p.Gly41Glu), ExAC rs780491184, TOPMed rs780491184, gnomAD rs780491184, REVEL 0.50, AlphaMissense 0.07
- G42C (p.Gly42Cys), gnomAD rs1285382713, REVEL 0.38, CADD 20.90
- G42D (p.Gly42Asp), ExAC rs750757560, gnomAD rs750757560, REVEL 0.47, CADD 22.80, Uncertain significance, Inborn genetic diseases
- G42V (p.Gly42Val), ExAC rs750757560, gnomAD rs750757560
- G44R (p.Gly44Arg), gnomAD rs1339537604, REVEL 0.47, CADD 23.60
- R45K (p.Arg45Lys), TOPMed rs1432892108, gnomAD rs1432892108, REVEL 0.23, AlphaMissense 0.13
- S48G (p.Ser48Gly), TOPMed rs1941565834
- S48N (p.Ser48Asn), gnomAD rs750662698
- S48R (p.Ser48Arg), ExAC rs758035884, TOPMed rs758035884, gnomAD rs758035884, Likely benign
- G50C (p.Gly50Cys), NCI-TCGA Cosmic COSV5286, REVEL 0.28, CADD 4.21, Variant assessed as somatic; moderate impact.
- G50D (p.Gly50Asp), ExAC rs752219630, TOPMed rs752219630, gnomAD rs752219630, REVEL 0.19, CADD 10.70
- G50S (p.Gly50Ser), Ensembl rs549115760
- G51A (p.Gly51Ala), rs137920159, ClinGen CA384976639, ClinVar RCV004412164, AlphaMissense 0.49, MetaLR 0.80, Uncertain significance, Inborn genetic diseases
- G51C (p.Gly51Cys), gnomAD rs1412235362, REVEL 0.31, CADD 6.77
- G51D (p.Gly51Asp), 1000Genomes rs137920159, ESP rs137920159, ExAC rs137920159, TOPMed rs137920159, REVEL 0.34, AlphaMissense 0.49
- G52A (p.Gly52Ala), gnomAD rs1176630687
- G52V (p.Gly52Val), gnomAD rs1176630687, REVEL 0.40, AlphaMissense 0.08
- G53D (p.Gly53Asp), 1000Genomes rs531100926, ExAC rs531100926, TOPMed rs531100926, gnomAD rs531100926, REVEL 0.46, CADD 13.90
- G53S (p.Gly53Ser), gnomAD rs1480969836, REVEL 0.17, CADD 7.38
- G53V (p.Gly53Val), NCI-TCGA Cosmic COSV9935, Variant assessed as somatic; moderate impact.
- A58T (p.Ala58Thr), TOPMed rs1941565417
- A58V (p.Ala58Val), Ensembl rs1941565389, REVEL 0.18, CADD 0.79
- G59R (p.Gly59Arg), NCI-TCGA Cosmic COSV9935, REVEL 0.36, CADD 19.00, Variant assessed as somatic; moderate impact.
- G60S (p.Gly60Ser), TOPMed rs1941565333, REVEL 0.37, CADD 9.78
- G61A (p.Gly61Ala), TOPMed rs1243164385, gnomAD rs1243164385, REVEL 0.55, CADD 21.80, Uncertain significance
- G61R (p.Gly61Arg), NCI-TCGA TCGA novel, ExAC rs753842056, gnomAD rs753842056, REVEL 0.61, CADD 23.50, Variant assessed as somatic; moderate impact.
- G61V (p.Gly61Val), TOPMed rs1243164385, gnomAD rs1243164385, REVEL 0.80, CADD 23.50, Uncertain significance, Inborn genetic diseases
- S64N (p.Ser64Asn), ExAC rs760593492, TOPMed rs760593492, gnomAD rs760593492, REVEL 0.44, CADD 24.60
- R65L (p.Arg65Leu), 1000Genomes rs552006414, ExAC rs552006414, TOPMed rs552006414, gnomAD rs552006414, REVEL 0.40, CADD 21.60, Likely benign
- R65Q (p.Arg65Gln), rs552006414, ClinGen CA6586480, ClinVar RCV003548448, 1000Genomes rs552006414, REVEL 0.25, CADD 21.80, Likely benign, not provided
- R65W (p.Arg65Trp), rs116444444, ClinGen CA6586481, ClinVar RCV000969075, ClinVar RCV004754656, REVEL 0.30, CADD 22.50, Likely benign, not provided
- S66G (p.Ser66Gly), gnomAD rs1941565075, REVEL 0.43, CADD 23.60
- V68D (p.Val68Asp), ExAC rs774379558, gnomAD rs774379558, REVEL 0.44, AlphaMissense 0.14
- G71C (p.Gly71Cys), NCI-TCGA Cosmic COSV5286, Variant assessed as somatic; moderate impact.
- G71R (p.Gly71Arg), TOPMed rs1941564956
- G71S (p.Gly71Ser), NCI-TCGA Cosmic COSV5286, Variant assessed as somatic; moderate impact.
- G72D (p.Gly72Asp), rs1216084977, TOPMed rs1216084977, gnomAD rs1216084977, REVEL 0.48, CADD 23.00, Variant assessed as somatic; moderate impact.
- G72V (p.Gly72Val), TOPMed rs1216084977, gnomAD rs1216084977, REVEL 0.71, CADD 23.20
- K74I (p.Lys74Ile), rs57977969, ClinGen CA126045, ClinVar RCV000017261, ClinVar RCV000057080, AlphaMissense 0.96, MetaLR 0.57, Pathogenic, Diffuse nonepidermolytic palmoplantar keratoderma
- S75N (p.Ser75Asn), gnomAD rs1362626391, REVEL 0.36, CADD 17.20
- I76F (p.Ile76Phe), Ensembl rs1941564839
- I76L (p.Ile76Leu), rs1941564839, ClinGen CA384976443, ClinVar RCV004412167, AlphaMissense 0.62, MetaLR 0.61, Uncertain significance, Inborn genetic diseases
- I76M (p.Ile76Met), gnomAD rs1302154097, REVEL 0.35, CADD 20.90
- S77A (p.Ser77Ala), TOPMed rs1224329691, REVEL 0.31, CADD 22.80
- I78V (p.Ile78Val), 1000Genomes rs149480015, ESP rs149480015, ExAC rs149480015, TOPMed rs149480015, REVEL 0.14, CADD 6.56
- V80M (p.Val80Met), gnomAD rs1336813635, REVEL 0.30, CADD 14.20, Uncertain significance, Inborn genetic diseases; not provided
- R82K (p.Arg82Lys), TOPMed rs1464830293, gnomAD rs1464830293
- R82T (p.Arg82Thr), TOPMed rs1464830293, gnomAD rs1464830293, REVEL 0.22, AlphaMissense 0.10
- G84C (p.Gly84Cys), TOPMed rs1941564396
- G85E (p.Gly85Glu), ESP rs138041295, ExAC rs138041295, TOPMed rs138041295, gnomAD rs138041295, REVEL 0.41, CADD 18.80, Uncertain significance, Inborn genetic diseases
- R86C (p.Arg86Cys), 1000Genomes rs145256530, ESP rs145256530, ExAC rs145256530, TOPMed rs145256530, REVEL 0.24, CADD 4.25, Uncertain significance, not provided
- R86H (p.Arg86His), rs886049637, ClinGen CA10641945, ClinVar RCV000331807, ClinVar RCV000386357, REVEL 0.14, AlphaMissense 0.09, Uncertain significance, not provided; Epidermolytic ichthyosis; Diffuse nonepidermolytic palmoplantar ke
- R86S (p.Arg86Ser), rs145256530, ClinGen CA6586473, ClinVar RCV000965893, ClinVar RCV003905902, REVEL 0.15, CADD 0.68, Benign, not provided
- G87V (p.Gly87Val), ExAC rs781535448, gnomAD rs781535448, REVEL 0.44, CADD 3.33
- S88G (p.Ser88Gly), TOPMed rs1941564164, REVEL 0.35, CADD 0.01
- S88R (p.Ser88Arg), gnomAD rs1442864499, REVEL 0.22, CADD 1.92
- G89A (p.Gly89Ala), NCI-TCGA Cosmic COSV5287, Variant assessed as somatic; moderate impact.
- G89C (p.Gly89Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G89S (p.Gly89Ser), ExAC rs757500946, TOPMed rs757500946, gnomAD rs757500946, REVEL 0.25, CADD 9.83
- G91R (p.Gly91Arg), TOPMed rs1457523986, gnomAD rs1457523986, REVEL 0.57, CADD 18.50
- G92C (p.Gly92Cys), gnomAD rs1206403081, REVEL 0.45, CADD 18.80
- G92V (p.Gly92Val), Ensembl rs2121011821
- G93C (p.Gly93Cys), gnomAD rs1307814081, REVEL 0.56, CADD 15.50
- Y94F (p.Tyr94Phe), TOPMed rs2741152, REVEL 0.25, CADD 0.00
- G95D (p.Gly95Asp), ExAC rs754553875, TOPMed rs754553875, gnomAD rs754553875, REVEL 0.51, CADD 13.00, Uncertain significance
- G95S (p.Gly95Ser), ExAC rs778385632, gnomAD rs778385632, REVEL 0.53, CADD 6.74
- G95V (p.Gly95Val), rs754553875, ClinGen CA384976324, ClinVar RCV001889114, ExAC rs754553875, REVEL 0.49, CADD 12.60, Uncertain significance, not provided
- G96C (p.Gly96Cys), ExAC rs753373623, TOPMed rs753373623, gnomAD rs753373623, REVEL 0.43, CADD 22.00
- G96S (p.Gly96Ser), ExAC rs753373623, TOPMed rs753373623, gnomAD rs753373623, REVEL 0.18, CADD 11.00
- G97S (p.Gly97Ser), Ensembl rs868799940, REVEL 0.39, CADD 7.99
- G98S (p.Gly98Ser), Ensembl rs1266922465, REVEL 0.14, CADD 0.66
- F99I (p.Phe99Ile), NCI-TCGA TCGA novel, Ensembl rs1941563473, Variant assessed as somatic; moderate impact.
- F99L (p.Phe99Leu), Ensembl rs1941563473, REVEL 0.30, CADD 12.20
- F99Y (p.Phe99Tyr), Ensembl rs1592266724
- G100D (p.Gly100Asp), TOPMed rs1941563388, REVEL 0.53, CADD 17.50
- G101A (p.Gly101Ala), rs147840212, ClinGen CA6586464, ClinVar RCV003545299, ClinVar RCV003966466, REVEL 0.33, CADD 7.18, Uncertain significance, not provided
- G101D (p.Gly101Asp), 1000Genomes rs147840212, ESP rs147840212, ExAC rs147840212, TOPMed rs147840212, REVEL 0.45, CADD 19.20, Likely benign
- G101R (p.Gly101Arg), Ensembl rs1555171557
- G101V (p.Gly101Val), 1000Genomes rs147840212, ESP rs147840212, ExAC rs147840212, TOPMed rs147840212, REVEL 0.50, CADD 10.10, Likely benign
- G102D (p.Gly102Asp), ExAC rs756115415, gnomAD rs756115415, REVEL 0.47, CADD 19.90
- G102S (p.Gly102Ser), gnomAD rs868166486, REVEL 0.33, CADD 12.80
- G103S (p.Gly103Ser), Ensembl rs796939377
- F104V (p.Phe104Val), Ensembl rs868696600
- F104Y (p.Phe104Tyr), Ensembl rs1555171555
- G105V (p.Gly105Val), rs146169155, ClinGen CA6586462, ClinVar RCV002962846, 1000Genomes rs146169155, REVEL 0.32, CADD 16.40, Uncertain significance, not provided
- G106D (p.Gly106Asp), gnomAD rs1164519634, REVEL 0.44, CADD 18.30
- G106R (p.Gly106Arg), gnomAD rs1355415018, REVEL 0.45, CADD 11.50
- G106S (p.Gly106Ser), rs1355415018, ClinGen CA384976268, ClinVar RCV002879134, REVEL 0.27, CADD 1.65, Uncertain significance, Inborn genetic diseases
- G107A (p.Gly107Ala), rs767433585, ClinGen CA6586461, ClinVar RCV002754522, ExAC rs767433585, REVEL 0.42, CADD 8.43, Uncertain significance, Inborn genetic diseases
- F109I (p.Phe109Ile), Ensembl rs1592266693
- G110D (p.Gly110Asp), TOPMed rs1246220741, gnomAD rs1246220741, REVEL 0.48, CADD 22.30
- G112D (p.Gly112Asp), gnomAD rs1248714213, REVEL 0.51, CADD 14.90
- G112S (p.Gly112Ser), TOPMed rs1446552789
- G113V (p.Gly113Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I114F (p.Ile114Phe), rs1941562379, ClinGen CA384976171, ClinVar RCV002777751, Ensembl rs1941562379, REVEL 0.24, CADD 0.03, Likely benign, Inborn genetic diseases
- G116D (p.Gly116Asp), TOPMed rs1941562241, REVEL 0.51, CADD 14.80
- G116S (p.Gly116Ser), gnomAD rs1264699711, REVEL 0.36, CADD 2.96
- G116V (p.Gly116Val), TOPMed rs1941562241, REVEL 0.51, CADD 9.90
- G117S (p.Gly117Ser), Ensembl rs1941562174
- F119L (p.Phe119Leu), TOPMed rs1941562117
- F119S (p.Phe119Ser), Ensembl rs1941562094
- G120D (p.Gly120Asp), gnomAD rs1361549177, REVEL 0.56, CADD 22.10, Uncertain significance, not provided
- G121D (p.Gly121Asp), NCI-TCGA Cosmic COSV9935, Variant assessed as somatic; moderate impact.
- F122C (p.Phe122Cys), Ensembl rs866517183, REVEL 0.34, CADD 6.37
- S124C (p.Ser124Cys), 1000Genomes rs564926977, ExAC rs564926977, TOPMed rs564926977, gnomAD rs564926977, REVEL 0.24, CADD 8.92
- S124I (p.Ser124Ile), 1000Genomes rs545263441, TOPMed rs545263441, gnomAD rs545263441
- S124N (p.Ser124Asn), 1000Genomes rs545263441, TOPMed rs545263441, gnomAD rs545263441, REVEL 0.11, CADD 3.52
- G125D (p.Gly125Asp), rs886049636, ClinGen CA10633227, ClinVar RCV000270471, ClinVar RCV000325503, REVEL 0.60, CADD 23.10, Uncertain significance, Epidermolytic ichthyosis; Diffuse nonepidermolytic palmoplantar keratoderma
- G126C (p.Gly126Cys), rs763145084, ExAC rs763145084, TOPMed rs763145084, gnomAD rs763145084, REVEL 0.47, CADD 22.40, Uncertain significance, Inborn genetic diseases
- G126V (p.Gly126Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G127A (p.Gly127Ala), gnomAD rs1366458984
- G127D (p.Gly127Asp), NCI-TCGA TCGA novel, gnomAD rs1366458984, Variant assessed as somatic; moderate impact.
- G128C (p.Gly128Cys), 1000Genomes rs573159240, TOPMed rs573159240, gnomAD rs573159240, Uncertain significance
- G128D (p.Gly128Asp), gnomAD rs1403458668, REVEL 0.50, CADD 22.40
- G128S (p.Gly128Ser), 1000Genomes rs573159240, TOPMed rs573159240, gnomAD rs573159240, REVEL 0.30, CADD 15.20, Uncertain significance, Inborn genetic diseases
- G130C (p.Gly130Cys), ExAC rs770355673, gnomAD rs770355673, REVEL 0.69, CADD 23.00
- G130D (p.Gly130Asp), Ensembl rs1565648106
- G130R (p.Gly130Arg), ExAC rs770355673, gnomAD rs770355673
- G131R (p.Gly131Arg), ExAC rs746382167, gnomAD rs746382167
- G132D (p.Gly132Asp), gnomAD rs1161359255, REVEL 0.52, CADD 20.40
- G132R (p.Gly132Arg), 1000Genomes rs776744794, ExAC rs776744794, TOPMed rs776744794, gnomAD rs776744794, REVEL 0.46, CADD 16.20
- F134I (p.Phe134Ile), TOPMed rs952892652, REVEL 0.27, CADD 15.50
- G135E (p.Gly135Glu), TOPMed rs1226313264
- G135W (p.Gly135Trp), Ensembl rs1941561280
Public KRT1 analysis runs
- KRT1 analysis run — KRT1 (1,162 variants) — completed 2026-08-22