JUN (Transcription factor Jun) variants and mutations
JUN (also known as Transcription factor Jun) is a human protein-coding gene encoding a transcription factor protein. Together with FOS-family partners, it forms AP-1 transcriptional complexes that convert stress, cytokine, and growth-factor signals into changes in proliferation, differentiation, and inflammation. Persistent activation can support tumor growth and inflammatory disease. This analysis covers 1,148 JUN variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes neurodegenerative disease, cancer, and Alzheimer disease. Example JUN variants include T2I, A3T, and A3V.
Variant analysis overview
- Gene: JUN
- Protein: Transcription factor Jun
- UniProt accession: P05412
- Organism: Homo sapiens
- Variants analyzed: 1148
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 676 unspecified-consequence records; 221 missense variants; 228 synonymous variants; 8 stop-gained variants; 4 frameshift variants; 8 in-frame deletions; 3 in-frame insertions
- Prediction scores: 992 variants have prediction scores (86% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, cancer, Alzheimer disease, colon adenocarcinoma, colorectal adenocarcinoma, skin squamous cell carcinoma, superficial spreading melanoma, endometrial endometrioid adenocarcinoma, breast neoplasm, urinary bladder carcinoma, melanoma, squamous cell lung carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 14 post-translational modification sites.
- Structural context: 160 variants have structural context.
- PTM context: 38 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable JUN variants
Examples include T2I, A3T, A3V, A3A, K4G, K4K, K4N, M5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- T2I (p.Thr2Ile), Ensembl rs2100740338, MetaLR 0.04, MetaSVM -1.05
- A3T (p.Ala3Thr), ExAC rs767611605, gnomAD rs767611605, REVEL 0.06, CADD 19.60
- A3V (p.Ala3Val), Ensembl rs865974199, REVEL 0.10, CADD 24.90
- A3A (p.Ala3Ala), gnomAD 1-58783062-T-C, CADD 15.30
- K4G (p.Lys4Gly), gnomAD 1-58783056-CATCTT, CADD 32.00
- K4K (p.Lys4Lys), gnomAD 1-58783059-C-T, CADD 13.40
- K4N (p.Lys4Asn), gnomAD 1-58783059-C-A, REVEL 0.12, MetaLR 0.07
- M5T (p.Met5Thr), ExAC rs761372530, gnomAD rs761372530, REVEL 0.53, CADD 24.20
- E6D (p.Glu6Asp), ExAC rs751178637, gnomAD rs751178637, REVEL 0.31, CADD 24.90
- E6K (p.Glu6Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T7A (p.Thr7Ala), gnomAD rs1268945396, REVEL 0.03, CADD 22.50
- T7M (p.Thr7Met), 1000Genomes rs528696835, TOPMed rs528696835, gnomAD rs528696835, REVEL 0.16, CADD 24.60
- T7R (p.Thr7Arg), 1000Genomes rs528696835, TOPMed rs528696835, gnomAD rs528696835, REVEL 0.21, CADD 27.60
- T7T (p.Thr7Thr), gnomAD 1-58783050-C-G, CADD 13.90
- T8I (p.Thr8Ile), Ensembl rs2100740318
- T8S (p.Thr8Ser), Ensembl rs2100740318, MetaLR 0.08, MetaSVM -1.03
- T8T (p.Thr8Thr), rs762524747, gnomAD 1-58783047-G-A, CADD 13.80
- F9L (p.Phe9Leu), NCI-TCGA Cosmic COSV1009, NCI-TCGA Cosmic COSV6466, MetaLR 0.13, MetaSVM -0.83, Variant assessed as somatic; moderate impact.
- Y10C (p.Tyr10Cys), gnomAD 1-58783042-T-C, REVEL 0.69, MetaLR 0.28
- Y10H (p.Tyr10His), gnomAD 1-58783043-A-G, REVEL 0.62, MetaLR 0.27
- D11D (p.Asp11Asp), rs776989971, gnomAD 1-58783038-G-A, CADD 11.40
- D11E (p.Asp11Glu), gnomAD 1-58783038-G-C, REVEL 0.04, MetaLR 0.05
- D12E (p.Asp12Glu), Ensembl rs2100740309
- D12N (p.Asp12Asn), gnomAD rs1363866933, MetaLR 0.07, MetaSVM -1.09
- D12Y (p.Asp12Tyr), gnomAD 1-58783037-C-A, REVEL 0.60, MetaLR 0.13
- A13D (p.Ala13Asp), NCI-TCGA Cosmic COSV6466, Variant assessed as somatic; moderate impact.
- A13S (p.Ala13Ser), TOPMed rs1320581733, gnomAD rs1320581733, REVEL 0.07, CADD 18.70
- A13T (p.Ala13Thr), TOPMed rs1320581733, gnomAD rs1320581733, REVEL 0.05, CADD 22.70
- A13V (p.Ala13Val), Ensembl rs1286283576, MetaLR 0.10, MetaSVM -0.95
- A13A (p.Ala13Ala), rs559893745, gnomAD 1-58783032-G-T, CADD 12.80
- L14F (p.Leu14Phe), rs542953484, ClinGen CA878390, ClinVar RCV004203586, 1000Genomes rs542953484, REVEL 0.09, CADD 22.10, Uncertain significance, not specified
- L14H (p.Leu14His), Ensembl rs2100740297
- L14V (p.Leu14Val), 1000Genomes rs542953484, ExAC rs542953484, TOPMed rs542953484, gnomAD rs542953484, REVEL 0.08, CADD 22.00, Uncertain significance
- L14L (p.Leu14Leu), rs574233278, gnomAD 1-58783029-G-A, CADD 10.60
- N15H (p.Asn15His), Ensembl rs2100740290, REVEL 0.19, CADD 24.00
- N15I (p.Asn15Ile), NCI-TCGA Cosmic COSV1009, Variant assessed as somatic; moderate impact.
- N15S (p.Asn15Ser), Ensembl rs1645589549
- N15Y (p.Asn15Tyr), Ensembl rs2100740290
- N15N (p.Asn15Asn), rs772608822, gnomAD 1-58783026-G-A, CADD 12.40
- N15T (p.Asn15Thr), gnomAD 1-58783027-T-G, REVEL 0.10, MetaLR 0.06
- N15D (p.Asn15Asp), gnomAD 1-58783028-T-C, REVEL 0.11, MetaLR 0.08
- A16P (p.Ala16Pro), ExAC rs748223511, TOPMed rs748223511, gnomAD rs748223511
- A16S (p.Ala16Ser), ExAC rs748223511, TOPMed rs748223511, gnomAD rs748223511, MetaLR 0.07, MetaSVM -1.07
- A16T (p.Ala16Thr), rs748223511, NCI-TCGA Cosmic COSV1009, ExAC rs748223511, TOPMed rs748223511, REVEL 0.12, CADD 23.00, Variant assessed as somatic; moderate impact.
- A16V (p.Ala16Val), TOPMed rs1261483202, gnomAD rs1261483202, REVEL 0.10, CADD 22.30
- A16A (p.Ala16Ala), rs774353336, gnomAD 1-58783023-G-A, CADD 14.60
- S17L (p.Ser17Leu), rs749502446, NCI-TCGA Cosmic COSV6466, ExAC rs749502446, REVEL 0.09, CADD 23.20, Variant assessed as somatic; moderate impact.
- S17P (p.Ser17Pro), ExAC rs768867417, gnomAD rs768867417, REVEL 0.04, CADD 23.20
- S17S (p.Ser17Ser), rs1474997621, gnomAD 1-58783020-C-A, CADD 12.30
- F18C (p.Phe18Cys), ExAC rs779848109, TOPMed rs779848109, gnomAD rs779848109, MetaLR 0.13, MetaSVM -0.95
- F18L (p.Phe18Leu), ExAC rs755842397, TOPMed rs755842397, gnomAD rs755842397, REVEL 0.11, CADD 22.50
- F18S (p.Phe18Ser), ExAC rs779848109, TOPMed rs779848109, gnomAD rs779848109, REVEL 0.17, CADD 23.40
- F18Y (p.Phe18Tyr), ExAC rs779848109, TOPMed rs779848109, gnomAD rs779848109, REVEL 0.17, CADD 22.30
- F18F (p.Phe18Phe), rs755842397, gnomAD 1-58783017-G-A, CADD 14.00
- L19F (p.Leu19Phe), Ensembl rs2100740271
- L19L (p.Leu19Leu), gnomAD 1-58783014-G-C, CADD 9.40
- L19H (p.Leu19His), gnomAD 1-58783015-A-T, REVEL 0.17, MetaLR 0.06
- P20A (p.Pro20Ala), Ensembl rs202200859
- P20L (p.Pro20Leu), NCI-TCGA Cosmic COSV1009, gnomAD rs1645589286, REVEL 0.09, CADD 11.60, Variant assessed as somatic; moderate impact.
- P20S (p.Pro20Ser), Ensembl rs202200859, MetaLR 0.03, MetaSVM -0.96
- P20P (p.Pro20Pro), rs757318424, gnomAD 1-58783011-C-T, CADD 14.00
- S21A (p.Ser21Ala), ESP rs367888705, ExAC rs367888705, TOPMed rs367888705, gnomAD rs367888705, REVEL 0.11, CADD 19.10
- S21S (p.Ser21Ser), rs1645589217, gnomAD 1-58783008-G-C, CADD 11.30
- E22D (p.Glu22Asp), gnomAD rs1471827024
- E22K (p.Glu22Lys), Ensembl rs2100740251
- E22Q (p.Glu22Gln), Ensembl rs2100740251, MetaLR 0.02, MetaSVM -1.00
- E22V (p.Glu22Val), ExAC rs774129209, TOPMed rs774129209, gnomAD rs774129209, REVEL 0.19, CADD 23.20
- E22E (p.Glu22Glu), rs1471827024, gnomAD 1-58783005-C-T, CADD 10.70
- S23N (p.Ser23Asn), Ensembl rs1569898249, REVEL 0.07, CADD 17.10
- S23S (p.Ser23Ser), rs2100740237, gnomAD 1-58783002-G-A, CADD 10.40
- S23R (p.Ser23Arg), gnomAD 1-58783004-T-G, REVEL 0.10, MetaLR 0.08
- G24A (p.Gly24Ala), Ensembl rs1014623383
- G24E (p.Gly24Glu), Ensembl rs1014623383
- G24R (p.Gly24Arg), ExAC rs758031435, TOPMed rs758031435, gnomAD rs758031435, REVEL 0.16, CADD 25.40
- G24* (p.Gly24Ter), gnomAD 1-58783001-C-A, CADD 37.00
- P25A (p.Pro25Ala), ExAC rs752317960, gnomAD rs752317960
- P25L (p.Pro25Leu), Ensembl rs2100740226, MetaLR 0.03, MetaSVM -0.99
- Y26H (p.Tyr26His), ExAC rs764993602, gnomAD rs764993602, REVEL 0.20, CADD 24.90
- Y26Y (p.Tyr26Tyr), rs1436726320, gnomAD 1-58782993-A-G, CADD 12.10
- G27D (p.Gly27Asp), Ensembl rs1004536812, REVEL 0.41, CADD 23.80
- G27V (p.Gly27Val), Ensembl rs1004536812, REVEL 0.36, CADD 22.80
- G27G (p.Gly27Gly), gnomAD 1-58782990-G-A, CADD 14.30
- Y28* (p.Tyr28Ter), ExAC rs767999929, TOPMed rs767999929, gnomAD rs767999929, CADD 36.00
- Y28C (p.Tyr28Cys), TOPMed rs1418822046, MetaLR 0.15, MetaSVM -0.87
- Y28H (p.Tyr28His), ExAC rs773634509, gnomAD rs773634509, REVEL 0.27, CADD 26.10
- Y28Y (p.Tyr28Tyr), rs767999929, gnomAD 1-58782987-G-A, CADD 10.90
- S29C (p.Ser29Cys), TOPMed rs1351439445, gnomAD rs1351439445, REVEL 0.06, CADD 24.10
- S29G (p.Ser29Gly), TOPMed rs1351439445, gnomAD rs1351439445, REVEL 0.01, CADD 21.40
- S29N (p.Ser29Asn), ExAC rs762323939, TOPMed rs762323939, gnomAD rs762323939, REVEL 0.06, CADD 21.00
- S29R (p.Ser29Arg), ExAC rs774448011
- S29I (p.Ser29Ile), gnomAD 1-58782985-C-A, REVEL 0.06, MetaLR 0.04
- N30K (p.Asn30Lys), ExAC rs768639195, TOPMed rs768639195, gnomAD rs768639195, REVEL 0.10, CADD 22.90
- N30T (p.Asn30Thr), Ensembl rs1569898165
- N30Y (p.Asn30Tyr), Ensembl rs2100740189
- N30S (p.Asn30Ser), gnomAD 1-58782982-T-C, REVEL 0.10, MetaLR 0.07
- P31H (p.Pro31His), Ensembl rs2100740179
- P31R (p.Pro31Arg), Ensembl rs2100740179
- P31S (p.Pro31Ser), ExAC rs749432897, gnomAD rs749432897, REVEL 0.13, CADD 22.30
- P31T (p.Pro31Thr), ExAC rs749432897, gnomAD rs749432897
- P31P (p.Pro31Pro), rs1645588779, gnomAD 1-58782978-G-T, CADD 13.50
- K32N (p.Lys32Asn), ExAC rs770207876, TOPMed rs770207876, gnomAD rs770207876
- K32Q (p.Lys32Gln), ExAC rs775540036, MetaLR 0.13, MetaSVM -1.02
- K32K (p.Lys32Lys), rs770207876, gnomAD 1-58782975-C-T, CADD 13.50
- K32E (p.Lys32Glu), gnomAD 1-58782977-T-C, REVEL 0.29, MetaLR 0.17
- I33V (p.Ile33Val), TOPMed rs1645588727, MetaLR 0.02, MetaSVM -0.99
- I33I (p.Ile33Ile), rs1432329993, gnomAD 1-58782972-G-A, CADD 13.50
- L34P (p.Leu34Pro), Ensembl rs2100740161
- L34L (p.Leu34Leu), gnomAD 1-58782969-C-T, CADD 12.50
- L34* (p.Leu34Ter), gnomAD 1-58782970-AG-A, CADD 31.00
- K35N (p.Lys35Asn), Ensembl rs2100740159, MetaLR 0.30, MetaSVM -0.30
- K35K (p.Lys35Lys), gnomAD 1-58782966-T-C, CADD 9.54
- Q36* (p.Gln36Ter), Ensembl rs2100740156
- Q36H (p.Gln36His), TOPMed rs1172545314, gnomAD rs1172545314
- Q36Q (p.Gln36Gln), rs1172545314, gnomAD 1-58782963-C-T, CADD 13.40
- S37I (p.Ser37Ile), NCI-TCGA Cosmic COSV6466, Variant assessed as somatic; moderate impact.
- S37N (p.Ser37Asn), TOPMed rs1452725173, gnomAD rs1452725173, REVEL 0.09, CADD 17.60
- S37T (p.Ser37Thr), TOPMed rs1452725173, gnomAD rs1452725173, MetaLR 0.07, MetaSVM -1.08
- S37S (p.Ser37Ser), rs1266676590, gnomAD 1-58782960-G-A, CADD 13.60
- M38I (p.Met38Ile), Ensembl rs2100740146, MetaLR 0.03, MetaSVM -1.05
- T39A (p.Thr39Ala), Ensembl rs1569898108
- T39I (p.Thr39Ile), TOPMed rs1055536939, REVEL 0.27, CADD 24.60
- T39P (p.Thr39Pro), Ensembl rs1569898108
- T39S (p.Thr39Ser), TOPMed rs1055536939, MetaLR 0.06, MetaSVM -1.10
- T39T (p.Thr39Thr), gnomAD 1-58782954-G-A, CADD 14.10
- T39N (p.Thr39Asn), gnomAD 1-58782955-G-T, REVEL 0.08, MetaLR 0.07
- L40M (p.Leu40Met), NCI-TCGA Cosmic COSV6466, Variant assessed as somatic; moderate impact.
- L40V (p.Leu40Val), TOPMed rs1372379363
- L40L (p.Leu40Leu), gnomAD 1-58782951-C-A, CADD 12.70
- N41D (p.Asn41Asp), Ensembl rs2100740125
- N41I (p.Asn41Ile), Ensembl rs1569898097
- N41K (p.Asn41Lys), gnomAD rs1192024840, REVEL 0.36, CADD 25.00
- N41T (p.Asn41Thr), Ensembl rs1569898097, MetaLR 0.14, MetaSVM -0.82
- L42V (p.Leu42Val), TOPMed rs770768081, gnomAD rs770768081, REVEL 0.33, CADD 24.60
- L42L (p.Leu42Leu), rs745644104, gnomAD 1-58782945-C-G, CADD 13.30
- A43P (p.Ala43Pro), Ensembl rs2100740106
- A43S (p.Ala43Ser), Ensembl rs2100740106
- A43T (p.Ala43Thr), Ensembl rs2100740106, REVEL 0.09, CADD 21.30
- A43V (p.Ala43Val), Ensembl rs867164065, MetaLR 0.09, MetaSVM -0.83
- A43D (p.Ala43Asp), gnomAD 1-58782943-G-T, REVEL 0.04, MetaLR 0.07
- D44E (p.Asp44Glu), ExAC rs746952801, gnomAD rs746952801
- D44H (p.Asp44His), ExAC rs757192206, gnomAD rs757192206, REVEL 0.50, CADD 28.70
- D44N (p.Asp44Asn), ExAC rs757192206, gnomAD rs757192206, REVEL 0.16, CADD 25.10
- D44V (p.Asp44Val), Ensembl rs2100740094, MetaLR 0.23, MetaSVM -0.56
- D44D (p.Asp44Asp), rs746952801, gnomAD 1-58782939-G-A, CADD 12.30
- P45A (p.Pro45Ala), TOPMed rs1483581904, gnomAD rs1483581904, REVEL 0.31, CADD 23.10
- P45S (p.Pro45Ser), TOPMed rs1483581904, gnomAD rs1483581904, REVEL 0.29, CADD 23.60
- P45T (p.Pro45Thr), TOPMed rs1483581904, gnomAD rs1483581904
- P45P (p.Pro45Pro), rs1569898043, gnomAD 1-58782936-T-C, CADD 13.90
- P45L (p.Pro45Leu), gnomAD 1-58782937-G-A, REVEL 0.48, MetaLR 0.13
- V46E (p.Val46Glu), Ensembl rs1569898038
- V46G (p.Val46Gly), Ensembl rs1569898038, REVEL 0.07, CADD 22.70
- V46L (p.Val46Leu), Ensembl rs2100740083
- V46M (p.Val46Met), Ensembl rs2100740083
- V46V (p.Val46Val), rs777290220, gnomAD 1-58782933-C-G, CADD 13.50
- G47A (p.Gly47Ala), gnomAD rs1309941160
- G47E (p.Gly47Glu), gnomAD rs1309941160
- G47R (p.Gly47Arg), gnomAD rs1232665318, REVEL 0.07, CADD 21.20
- G47W (p.Gly47Trp), gnomAD rs1232665318
- G47G (p.Gly47Gly), gnomAD 1-58782930-C-A, CADD 12.90
- S48C (p.Ser48Cys), Ensembl rs2100740072
- S48G (p.Ser48Gly), Ensembl rs2100740072
- S48N (p.Ser48Asn), Ensembl rs1569898015
- S48R (p.Ser48Arg), Ensembl rs2100740061
- S48T (p.Ser48Thr), Ensembl rs1569898015, MetaLR 0.05, MetaSVM -1.05
- L49P (p.Leu49Pro), Ensembl rs2100740054
- L49V (p.Leu49Val), Ensembl rs2100740058
- L49L (p.Leu49Leu), rs2100740048, gnomAD 1-58782924-C-T, CADD 13.60
- K50E (p.Lys50Glu), Ensembl rs2100740046, REVEL 0.42, CADD 27.30
- K50M (p.Lys50Met), Ensembl rs2100740043
- K50N (p.Lys50Asn), Ensembl rs2100740039
- K50T (p.Lys50Thr), Ensembl rs2100740043, MetaLR 0.21, MetaSVM -0.61
- K50Q (p.Lys50Gln), gnomAD 1-58782923-T-G, REVEL 0.25, MetaLR 0.21
- P51A (p.Pro51Ala), ExAC rs757826090, gnomAD rs757826090
- P51L (p.Pro51Leu), 1000Genomes rs560736323, ExAC rs560736323, gnomAD rs560736323
- P51R (p.Pro51Arg), 1000Genomes rs560736323, ExAC rs560736323, gnomAD rs560736323, REVEL 0.33, CADD 28.50
- P51S (p.Pro51Ser), ExAC rs757826090, gnomAD rs757826090
- P51T (p.Pro51Thr), ExAC rs757826090, gnomAD rs757826090, REVEL 0.26, CADD 24.50
- P51P (p.Pro51Pro), rs2100740031, gnomAD 1-58782918-C-T, CADD 14.70
- H52R (p.His52Arg), Ensembl rs2100740026, REVEL 0.08, CADD 23.80
- H52Y (p.His52Tyr), Ensembl rs2100740028
Public JUN analysis runs
- JUN analysis run — JUN (1,148 variants) — completed 2026-08-19