AURKA (Aurora kinase A) variants and mutations
AURKA (also known as Aurora kinase A) is a human protein-coding gene encoding an aurora kinase A protein. It coordinates centrosome maturation, spindle assembly, and chromosome segregation during mitosis. Overexpression or amplification can promote chromosomal instability and tumor progression, making its kinase activity a target of anticancer drug development. This analysis covers 967 AURKA variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes neurodegenerative disease, Alzheimer disease, and Parkinson disease. Example AURKA variants include M1?, D2E, and R3*.
Variant analysis overview
- Gene: AURKA
- Protein: Aurora kinase A
- UniProt accession: O14965
- Organism: Homo sapiens
- Variants analyzed: 967
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 734 unspecified-consequence records; 16 frameshift variants; 86 missense variants; 115 synonymous variants; 2 in-frame deletions; 2 stop lost; 8 stop-gained variants; 4 substitution
- Prediction scores: 512 variants have prediction scores (53% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, Alzheimer disease, Parkinson disease, lysosomal storage disease, multiple sclerosis, mature T-cell and NK-cell non-Hodgkin lymphoma, response to xenobiotic stimulus, alcohol drinking, cancer, prostate adenocarcinoma, colorectal cancer, breast cancer.
Protein structure and variant hotspots
- Protein features: 1 domains; 5 binding sites; 5 post-translational modification sites.
- Structural context: 632 variants have structural context.
- PTM context: 12 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 AURKA variants
Examples include M1?, D2E, R3*, R3D, R3G, R3L, R3Q, S4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5385, cosmic curated COSV53858, Variant assessed as somatic; high impact.
- D2E (p.Asp2Glu), cosmic curated COSV10586, gnomAD rs1372816386, REVEL 0.04, CADD 16.70
- R3* (p.Arg3Ter), cosmic curated COSV53860, TOPMed rs1488214455, CADD 36.00
- R3D (p.Arg3Asp), NCI-TCGA Cosmic COSV5386, Variant assessed as somatic; high impact.
- R3G (p.Arg3Gly), TOPMed rs1488214455
- R3L (p.Arg3Leu), rs745894289, ClinGen CA9917548, ClinVar RCV004421270, ExAC rs745894289, REVEL 0.04, CADD 22.40, Uncertain significance, not specified
- R3Q (p.Arg3Gln), cosmic curated COSV53860, ExAC rs745894289, TOPMed rs745894289, gnomAD rs745894289, REVEL 0.08, CADD 18.30, Uncertain significance
- S4A (p.Ser4Ala), gnomAD rs1439588568, REVEL 0.03, CADD 13.50
- S4F (p.Ser4Phe), cosmic curated COSV53860
- S4Y (p.Ser4Tyr), NCI-TCGA Cosmic COSV5385, cosmic curated COSV53857, NCI-TCGA Cosmic COSV5386, TOPMed rs1986616993, REVEL 0.07, CADD 23.30, Variant assessed as somatic; moderate impact.
- K5E (p.Lys5Glu), TOPMed rs1319672869, gnomAD rs1319672869, REVEL 0.14, CADD 23.90, Uncertain significance, not specified
- K5R (p.Lys5Arg), cosmic curated COSV10957
- E6Q (p.Glu6Gln), Ensembl rs2146212244, REVEL 0.11, CADD 26.90
- N7K (p.Asn7Lys), 1000Genomes rs142322743, ESP rs142322743, ExAC rs142322743, TOPMed rs142322743, REVEL 0.11, CADD 24.50, Benign
- N7T (p.Asn7Thr), ExAC rs779031598, gnomAD rs779031598, REVEL 0.12, CADD 25.30
- S10* (p.Ser10Ter), TOPMed rs1381110341, CADD 36.00
- S10L (p.Ser10Leu), cosmic curated COSV53859, TOPMed rs1381110341
- S10P (p.Ser10Pro), cosmic curated COSV53859
- G11* (p.Gly11Ter), cosmic curated COSV53860, CADD 36.00
- G11R (p.Gly11Arg), rs6069717, NCI-TCGA Cosmic COSV5386, cosmic curated COSV99410, UniProt VAR 030840, REVEL 0.05, CADD 17.50, Variant assessed as somatic; moderate impact.
- G11V (p.Gly11Val), cosmic curated COSV53858, REVEL 0.15, CADD 25.70
- P12L (p.Pro12Leu), cosmic curated COSV53860, ExAC rs749521329, gnomAD rs749521329, REVEL 0.07, CADD 22.90
- P12R (p.Pro12Arg), ExAC rs749521329, gnomAD rs749521329, REVEL 0.08, CADD 23.70
- V13F (p.Val13Phe), TOPMed rs1441802471, gnomAD rs1441802471, REVEL 0.09, CADD 6.11
- K14* (p.Lys14Ter), ExAC rs767872675, gnomAD rs767872675, CADD 28.80
- K14E (p.Lys14Glu), ExAC rs767872675, gnomAD rs767872675, REVEL 0.11, CADD 26.50
- K14N (p.Lys14Asn), cosmic curated COSV53859, Ensembl rs6064386
- K14Q (p.Lys14Gln), ExAC rs767872675, gnomAD rs767872675, REVEL 0.05, CADD 22.80
- A15D (p.Ala15Asp), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10045, Variant assessed as somatic; moderate impact.
- A15L (p.Ala15Leu), Ensembl rs1986610074
- A15S (p.Ala15Ser), TOPMed rs1986404027
- A15T (p.Ala15Thr), cosmic curated COSV10045, REVEL 0.07, CADD 2.10
- A17G (p.Ala17Gly), ESP rs373331431, ExAC rs373331431, TOPMed rs373331431, gnomAD rs373331431, REVEL 0.09, CADD 2.68
- A17P (p.Ala17Pro), ExAC rs748414317, gnomAD rs748414317, REVEL 0.06, CADD 1.52
- A17V (p.Ala17Val), ESP rs373331431, ExAC rs373331431, TOPMed rs373331431, gnomAD rs373331431
- P18A (p.Pro18Ala), cosmic curated COSV10461
- P18L (p.Pro18Leu), cosmic curated COSV57168
- P18S (p.Pro18Ser), cosmic curated COSV57168
- V19A (p.Val19Ala), TOPMed rs1475776989, gnomAD rs1475776989, REVEL 0.10, CADD 4.90
- V19I (p.Val19Ile), 1000Genomes rs2146205776, REVEL 0.04, CADD 1.54
- G21D (p.Gly21Asp), TOPMed rs1422893955, gnomAD rs1422893955, REVEL 0.11, CADD 17.70
- G21V (p.Gly21Val), TOPMed rs1422893955, gnomAD rs1422893955
- P22T (p.Pro22Thr), gnomAD rs1986399154, REVEL 0.21, CADD 23.10
- R24C (p.Arg24Cys), cosmic curated COSV10045, 1000Genomes rs188825988, ExAC rs188825988, TOPMed rs188825988, REVEL 0.39, CADD 23.10
- R24H (p.Arg24His), cosmic curated COSV57167, ExAC rs779597046, TOPMed rs779597046, gnomAD rs779597046, REVEL 0.26, CADD 22.80
- R24L (p.Arg24Leu), ExAC rs779597046, TOPMed rs779597046, gnomAD rs779597046, REVEL 0.35, CADD 24.20
- R24P (p.Arg24Pro), ExAC rs779597046, TOPMed rs779597046, gnomAD rs779597046
- L26F (p.Leu26Phe), TOPMed rs1986397208, REVEL 0.04, CADD 13.60
- L26V (p.Leu26Val), cosmic curated COSV10045
- V27L (p.Val27Leu), ExAC rs750077869, TOPMed rs750077869, gnomAD rs750077869, cosmic curated COSV10881, REVEL 0.16, CADD 3.70
- V27M (p.Val27Met), cosmic curated COSV57168, ExAC rs750077869, TOPMed rs750077869, gnomAD rs750077869, REVEL 0.12, CADD 10.80
- Q29* (p.Gln29Ter), cosmic curated COSV57168, Ensembl rs2146205526
- F31I (p.Phe31Ile), rs2273535, ClinGen CA118383, cosmic curated COSV57167, ClinVar RCV000007021, REVEL 0.05, CADD 1.76, Benign, not provided
- F31L (p.Phe31Leu), 1000Genomes rs2273535, ESP rs2273535, ExAC rs2273535, TOPMed rs2273535, Benign
- F31V (p.Phe31Val), 1000Genomes rs2273535, ESP rs2273535, ExAC rs2273535, TOPMed rs2273535, REVEL 0.07, CADD 1.39, Benign
- P32H (p.Pro32His), cosmic curated COSV10045
- P32S (p.Pro32Ser), rs1338142196, NCI-TCGA Cosmic COSV5716, cosmic curated COSV57169, gnomAD rs1338142196, AlphaMissense 0.07, MetaLR 0.09, Variant assessed as somatic; moderate impact.
- C33F (p.Cys33Phe), TOPMed rs1986394024
- Q34H (p.Gln34His), ESP rs145616804, TOPMed rs145616804, gnomAD rs145616804, REVEL 0.12, CADD 16.50
- Q34R (p.Gln34Arg), ExAC rs753618383, TOPMed rs753618383, gnomAD rs753618383, REVEL 0.14, CADD 18.70
- P36L (p.Pro36Leu), ExAC rs763948949, gnomAD rs763948949, REVEL 0.03, CADD 9.14
- P36S (p.Pro36Ser), TOPMed rs1211313151, gnomAD rs1211313151, REVEL 0.04, CADD 17.10
- L37F (p.Leu37Phe), cosmic curated COSV57169
- L37I (p.Leu37Ile), cosmic curated COSV57167
- L37S (p.Leu37Ser), TOPMed rs1313879008, gnomAD rs1313879008, REVEL 0.12, CADD 14.70
- P38H (p.Pro38His), cosmic curated COSV57169
- P38S (p.Pro38Ser), Ensembl rs1986390282
- V39I (p.Val39Ile), TOPMed rs1315333827, gnomAD rs1315333827, REVEL 0.03, CADD 9.14
- V39L (p.Val39Leu), TOPMed rs1315333827, gnomAD rs1315333827
- N40S (p.Asn40Ser), gnomAD rs1357703858, REVEL 0.07, CADD 11.50
- S41C (p.Ser41Cys), TOPMed rs1196676729, gnomAD rs1196676729, REVEL 0.09, CADD 23.50
- S41I (p.Ser41Ile), Ensembl rs2146205272
- S41N (p.Ser41Asn), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10045, Variant assessed as somatic; moderate impact.
- G42D (p.Gly42Asp), cosmic curated COSV57167, gnomAD rs556861777, REVEL 0.12, CADD 23.10
- G42V (p.Gly42Val), gnomAD rs556861777
- Q43* (p.Gln43Ter), cosmic curated COSV57169
- A44P (p.Ala44Pro), Ensembl rs2146205223
- A44S (p.Ala44Ser), cosmic curated COSV57170
- A44T (p.Ala44Thr), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10045, NCI-TCGA Cosmic COSV5717, Ensembl rs2146205223, REVEL 0.13, CADD 23.30, Variant assessed as somatic; moderate impact.
- Q45* (p.Gln45Ter), Ensembl rs2146205211
- R46L (p.Arg46Leu), ExAC rs769961096, TOPMed rs769961096, gnomAD rs769961096
- R46P (p.Arg46Pro), ExAC rs769961096, TOPMed rs769961096, gnomAD rs769961096, REVEL 0.23, CADD 23.20
- R46Q (p.Arg46Gln), ExAC rs769961096, TOPMed rs769961096, gnomAD rs769961096, REVEL 0.18, CADD 25.00
- R46W (p.Arg46Trp), ExAC rs763087319, TOPMed rs763087319, gnomAD rs763087319, REVEL 0.35, CADD 22.20
- V47F (p.Val47Phe), Ensembl rs2146205124
- V47L (p.Val47Leu), Ensembl rs2146205124
- C49* (p.Cys49Ter), Ensembl rs2146205052
- C49G (p.Cys49Gly), ExAC rs781474634, gnomAD rs781474634, REVEL 0.12, CADD 23.10, Uncertain significance, not specified
- C49R (p.Cys49Arg), ExAC rs781474634, gnomAD rs781474634, REVEL 0.17, CADD 23.30, Uncertain significance
- C49Y (p.Cys49Tyr), TOPMed rs1181783760, gnomAD rs1181783760, REVEL 0.10, CADD 24.60
- P50L (p.Pro50Leu), rs34572020, UniProt VAR 041127, 1000Genomes rs34572020, ESP rs34572020, REVEL 0.17, CADD 24.80
- P50S (p.Pro50Ser), ExAC rs769051409, gnomAD rs769051409, REVEL 0.05, CADD 19.10
- S51L (p.Ser51Leu), cosmic curated COSV57169
- N52H (p.Asn52His), rs1397339267, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10045, gnomAD rs1397339267, REVEL 0.11, CADD 25.10, Variant assessed as somatic; moderate impact.
- N52T (p.Asn52Thr), NCI-TCGA TCGA novel, REVEL 0.11, CADD 23.80, Variant assessed as somatic; moderate impact.
- S53F (p.Ser53Phe), cosmic curated COSV57168, Ensembl rs2146204984
- S53Y (p.Ser53Tyr), NCI-TCGA Cosmic COSV5716, cosmic curated COSV57167, Variant assessed as somatic; moderate impact.
- S54F (p.Ser54Phe), cosmic curated COSV57167, TOPMed rs1986382866, gnomAD rs1986382866, REVEL 0.06, CADD 22.20
- Q55* (p.Gln55Ter), Ensembl rs2146204944
- Q55L (p.Gln55Leu), cosmic curated COSV57168
- R56C (p.Arg56Cys), rs375420005, cosmic curated COSV57168, ESP rs375420005, ExAC rs375420005, REVEL 0.15, CADD 23.20, Variant assessed as somatic; moderate impact.
- R56H (p.Arg56His), rs749883403, NCI-TCGA Cosmic COSV5716, cosmic curated COSV57167, ExAC rs749883403, REVEL 0.10, CADD 21.80, Variant assessed as somatic; moderate impact.
- R56S (p.Arg56Ser), ESP rs375420005, ExAC rs375420005, TOPMed rs375420005, gnomAD rs375420005, REVEL 0.07, CADD 19.10
- I57V (p.Ile57Val), rs1047972, ClinGen CA9917486, cosmic curated COSV10045, ClinVar RCV003979654, REVEL 0.03, CADD 0.00, Benign, AURKA-related disorder
- P58L (p.Pro58Leu), cosmic curated COSV10517, TOPMed rs1986379448, REVEL 0.11, CADD 23.10
- P58R (p.Pro58Arg), cosmic curated COSV10461
- P58S (p.Pro58Ser), cosmic curated COSV57167, Ensembl rs2146204871
- L59S (p.Leu59Ser), TOPMed rs1986378714
- Q60R (p.Gln60Arg), ExAC rs753518238, TOPMed rs753518238, gnomAD rs753518238, REVEL 0.06, CADD 15.40
- A61E (p.Ala61Glu), gnomAD rs1255617961, REVEL 0.10, CADD 17.00
- A61T (p.Ala61Thr), Ensembl rs2146204816
- Q62R (p.Gln62Arg), Ensembl rs1986374918, Uncertain significance, not specified
- K63N (p.Lys63Asn), rs373634582, ClinGen CA9917483, ClinVar RCV004343770, ESP rs373634582, REVEL 0.11, CADD 23.50, Uncertain significance, not specified
- V65A (p.Val65Ala), TOPMed rs1475407765, gnomAD rs1475407765, REVEL 0.04, CADD 8.28
- V65I (p.Val65Ile), cosmic curated COSV10735, gnomAD rs1294435614, REVEL 0.03, CADD 2.65
- S66C (p.Ser66Cys), TOPMed rs1281596637, gnomAD rs1281596637, REVEL 0.08, CADD 15.10
- H68D (p.His68Asp), cosmic curated COSV57169
- H68Q (p.His68Gln), NCI-TCGA TCGA novel, REVEL 0.06, CADD 0.00, Variant assessed as somatic; moderate impact.
- K69R (p.Lys69Arg), TOPMed rs761965396, REVEL 0.11, CADD 18.10
- P70L (p.Pro70Leu), rs767515238, ClinGen CA9917480, cosmic curated COSV10045, ClinVar RCV004353705, REVEL 0.13, CADD 7.26, Likely benign, not specified
- P70S (p.Pro70Ser), Ensembl rs2146204642
- V71I (p.Val71Ile), Ensembl rs2146204588
- Q72* (p.Gln72Ter), Ensembl rs2146204548
- Q72R (p.Gln72Arg), ExAC rs568356248, TOPMed rs568356248, gnomAD rs568356248, REVEL 0.04, CADD 7.43, Uncertain significance, not specified
- N73K (p.Asn73Lys), Ensembl rs971358516
- Q74* (p.Gln74Ter), Ensembl rs1986367624
- Q74H (p.Gln74His), rs769911074, ClinGen CA9917477, ClinVar RCV004264021, ExAC rs769911074, REVEL 0.11, CADD 9.70, Uncertain significance, not specified
- Q74L (p.Gln74Leu), Ensembl rs1986367154
- K75N (p.Lys75Asn), gnomAD rs1163949591, REVEL 0.04, CADD 12.70
- K75Q (p.Lys75Gln), Ensembl rs1015357020
- Q76P (p.Gln76Pro), Ensembl rs1986365420
- K77R (p.Lys77Arg), TOPMed rs1403493502, gnomAD rs1403493502, REVEL 0.06, CADD 23.40
- Q78E (p.Gln78Glu), TOPMed rs1318153493, gnomAD rs1318153493, REVEL 0.11, CADD 20.20
- L79F (p.Leu79Phe), cosmic curated COSV10815, REVEL 0.11, CADD 13.20
- Q80* (p.Gln80Ter), Ensembl rs2146204357
- Q80R (p.Gln80Arg), Ensembl rs2146204350
- A81T (p.Ala81Thr), cosmic curated COSV57169, TOPMed rs1177507344, gnomAD rs1177507344, REVEL 0.07, CADD 8.48
- A81V (p.Ala81Val), NCI-TCGA Cosmic COSV5717, cosmic curated COSV57170, Variant assessed as somatic; moderate impact.
- T82A (p.Thr82Ala), TOPMed rs1986361430
- S83N (p.Ser83Asn), NCI-TCGA Cosmic COSV5716, cosmic curated COSV57168, REVEL 0.07, CADD 8.72, Variant assessed as somatic; moderate impact.
- V84A (p.Val84Ala), cosmic curated COSV57170, 1000Genomes rs45533839, ExAC rs45533839, TOPMed rs45533839, REVEL 0.02, CADD 0.37
- V84E (p.Val84Glu), NCI-TCGA Cosmic COSV5716, cosmic curated COSV57167, Variant assessed as somatic; moderate impact.
- V84I (p.Val84Ile), Ensembl rs1479887662
- V84L (p.Val84Leu), Ensembl rs1479887662
- P85S (p.Pro85Ser), cosmic curated COSV57168, gnomAD rs1468523581, REVEL 0.04, CADD 11.60
- H86L (p.His86Leu), Ensembl rs1986357846
- H86Y (p.His86Tyr), cosmic curated COSV57168
- P87L (p.Pro87Leu), cosmic curated COSV57167, Uncertain significance, not specified
- V88I (p.Val88Ile), gnomAD rs1221521216, REVEL 0.05, CADD 13.10
- S89C (p.Ser89Cys), NCI-TCGA Cosmic COSV5717, cosmic curated COSV57170, Variant assessed as somatic; moderate impact.
- S89F (p.Ser89Phe), gnomAD rs1320396487, REVEL 0.15, CADD 15.20
- R90M (p.Arg90Met), cosmic curated COSV57170
- R90S (p.Arg90Ser), Ensembl rs1258775616
- R90T (p.Arg90Thr), gnomAD rs1376513260, REVEL 0.05, CADD 2.84
- P91L (p.Pro91Leu), cosmic curated COSV57168
- P91Q (p.Pro91Gln), cosmic curated COSV57169
- P91S (p.Pro91Ser), TOPMed rs1986354207
- N93S (p.Asn93Ser), TOPMed rs1420463153, gnomAD rs1420463153, REVEL 0.06, CADD 0.00, Likely benign, not specified
- T95I (p.Thr95Ile), Ensembl rs952233187
- T95P (p.Thr95Pro), Ensembl rs1600707681, REVEL 0.07, CADD 7.88
- Q96* (p.Gln96Ter), TOPMed rs1986351384
- Q96R (p.Gln96Arg), Ensembl rs1986350905, Uncertain significance, not specified
- K97N (p.Lys97Asn), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10045, Uncertain significance, not specified
- S98G (p.Ser98Gly), ExAC rs746371874, TOPMed rs746371874, gnomAD rs746371874, REVEL 0.05, CADD 18.20
- S98I (p.Ser98Ile), Ensembl rs2146203922
- S98N (p.Ser98Asn), NCI-TCGA Cosmic COSV5716, cosmic curated COSV57167, Variant assessed as somatic; moderate impact.
- S98R (p.Ser98Arg), cosmic curated COSV57169, ESP rs369728775, ExAC rs369728775, gnomAD rs369728775, REVEL 0.07, CADD 0.73
- K99N (p.Lys99Asn), Ensembl rs2146203888
- Q100* (p.Gln100Ter), NCI-TCGA TCGA novel, Ensembl rs2146203871, Variant assessed as somatic; high impact.
- Q100H (p.Gln100His), TOPMed rs1346822742, gnomAD rs1346822742
- Q100L (p.Gln100Leu), cosmic curated COSV57170
- P101A (p.Pro101Ala), gnomAD rs1986348512, REVEL 0.08, CADD 2.67
- P101H (p.Pro101His), TOPMed rs1371585869, gnomAD rs1371585869, REVEL 0.14, CADD 22.60
- P101L (p.Pro101Leu), cosmic curated COSV10815, TOPMed rs1371585869, gnomAD rs1371585869
- P101S (p.Pro101Ser), NCI-TCGA TCGA novel, gnomAD rs1986348512, Variant assessed as somatic; moderate impact.
- P103L (p.Pro103Leu), ExAC rs748900943, gnomAD rs748900943, REVEL 0.16, CADD 17.80
- P103S (p.Pro103Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S104* (p.Ser104Ter), 1000Genomes rs2230743, ESP rs2230743, ExAC rs2230743, TOPMed rs2230743, Likely benign
- S104L (p.Ser104Leu), rs2230743, ClinGen CA9917466, cosmic curated COSV57168, ClinVar RCV003911552, REVEL 0.08, CADD 17.30, Likely benign, AURKA-related disorder
- A105G (p.Ala105Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
Public AURKA analysis runs
- AURKA analysis run — AURKA (967 variants) — completed 2026-08-20