CIViC Variants
1951 variants indexed
Variant Types
Sequence Ontology (SO) terms describing the molecular consequence of each variant, as curated in CIViC. Hover a bar for the definition.
| CIViC ID | Gene | Variant | HGVS | Type(s) |
|---|---|---|---|---|
| 1488 | ABL1 | L387M LEU387MET | ENST00000318560.5:c.1159T>A,NC_000009.11:g.133750328T>A,NM_005157.5:c.1159T>A,NP_005148.2:p.Leu387Met | missense_variant |
| 4597 | ABL1 | M244V RS121913456,M263V,MET263VAL | NM_005157.5:c.730A>G,NP_005148.2:p.Met244Val,NC_000009.11:g.133738330A>G,ENST00000318560.5:c.730A>G | missense_variant |
| 1524 | ABL1 | M343T M362T,MET343THR,MET362THR | ENST00000318560.5:c.1028T>C,NC_000009.11:g.133748367T>C,NM_005157.5:c.1028T>C,NP_005148.2:p.Met343Thr | missense_variant |
| 1029 | ABL1 | M351T RS121913457,M370T,MET351THR,MET370THR | NM_005157.5:c.1052T>C,NP_005148.2:p.Met351Thr,NC_000009.11:g.133748391T>C,ENST00000318560.5:c.1052T>C | missense_variant |
| 1610 | ABL1 | M388L M407L,MET388LEU | ENST00000318560.5:c.1162A>T,NC_000009.11:g.133750331A>T,NM_005157.5:c.1162A>T,NP_005148.2:p.Met388Leu | missense_variant |
| 2951 | ABL1 | N146S ASN146SER | missense_variant | |
| 1529 | ABL1 | N331S N350S,RS144448357,ASN331SER,ASN350SER | ENST00000318560.5:c.992A>G,NC_000009.11:g.133748331A>G,NM_005157.5:c.992A>G,NP_005148.2:p.Asn331Ser | missense_variant |
| 1640 | ABL1 | N336S N355S,ASN336SER,ASN355SER | ENST00000318560.5:c.1007A>G,NC_000009.11:g.133748346A>G,NM_005157.5:c.1007A>G,NP_005148.2:p.Asn336Ser | missense_variant |
| 2376 | ABL1 | Non-P-Loop Mutation | ||
| 2375 | ABL1 | P-Loop Mutation | ||
| 1537 | ABL1 | P480A P499A,PRO480ALA,PRO499ALA | ENST00000318560.5:c.1438C>G,NC_000009.11:g.133755469C>G,NM_005157.5:c.1438C>G,NP_005148.2:p.Pro480Ala | missense_variant |
| 4634 | ABL1 | Q252H GLN252HIS,Q271H,RS121913458 | NM_005157.5:c.756G>C,NP_005148.2:p.Gln252His,NC_000009.11:g.133738356G>C,ENST00000318560.5:c.756G>C | missense_variant |
| 1527 | ABL1 | Q300R Q319R,GLN300ARG,GLN319ARG | ENST00000318560.5:c.899A>G,NC_000009.11:g.133747592A>G,NM_005157.5:c.899A>G,NP_005148.2:p.Gln300Arg | missense_variant |
| 1656 | ABL1 | R351W R332W,ARG351TRP,RS779478267 | ENST00000372348.2:c.1051C>T,NC_000009.11:g.133748333C>T,NM_007313.2:c.1051C>T,NP_009297.2:p.Arg351Trp | missense_variant |
| 1613 | ABL1 | S417Y SER417TYR | ENST00000318560.5:c.1250C>A,NC_000009.11:g.133750419C>A,NM_005157.5:c.1250C>A,NP_005148.2:p.Ser417Tyr | missense_variant |
| 1495 | ABL1 | S438C S457C,SER438CYS,SER457CYS | ENST00000318560.5:c.1313C>G | missense_variant |
| 4645 | ABL1 | T315A THR315ALA,T334A,RS1057519772 | NM_005157.5:c.943A>G,NP_005148.2:p.Thr315Ala,NC_000009.11:g.133748282A>G,ENST00000318560.5:c.943A>G | missense_variant |
| 2 | ABL1 | T315I THR334ILE,RS121913459 | NM_007313.2:c.1001C>T,NP_005148.2:p.Thr315Ile,ENST00000372348.2:c.1001C>T,NC_000009.11:g.133748283C>T | missense_variant |
| 2885 | ABL1 | T315V THR315VAL | ENST00000318560.6:c.943_944delinsGT,NM_005157.6:c.943_944delinsGT,NP_005148.2:p.Thr315Val,ENSP00000323315.5:p.Thr315Val | missense_variant |
| 2371 | ABL1 | TKD Mutation | ||
| 1604 | ABL1 | V289I V308I,VAL289ILE | ENST00000318560.5:c.865G>A,NC_000009.11:g.133747558G>A,NM_005157.5:c.865G>A,NP_005148.2:p.Val289Ile | missense_variant |
| 4639 | ABL1 | V299L RS1057519771,VAL299LEU | NM_005157.5:c.895G>C,NP_005148.2:p.Val299Leu,NC_000009.11:g.133747588G>C,ENST00000318560.5:c.895G>C | missense_variant |
| 1609 | ABL1 | V379I V398I,VAL379ILE,VAL398ILE | ENST00000318560.5:c.1135G>A,NC_000009.11:g.133750304G>A,NM_005157.5:c.1135G>A,NP_005148.2:p.Val379Ile | missense_variant |
| 4942 | ABL1 | Y253F | ||
| 4529 | ABL1 | Y253H RS121913461,Y272H,TYR272HIS | NM_005157.5:c.757T>C,NP_005148.2:p.Tyr253His,NC_000009.11:g.133738357T>C,ENST00000318560.5:c.757T>C | missense_variant |
| 3688 | ABL2 | W469C | ||
| 546 | ACTA1 | EXPRESSION | ||
| 780 | ACTB::GLI1 | Fusion T(7;12)(P21-22;Q13-15),ACTB-GLI1 | transcript_fusion | |
| 2283 | ACVR1 | G328E | gain_of_function_variant,missense_variant | |
| 1686 | ACVR1 | G328V GLY328VAL,RS387906589 | NM_001105.4:c.983G>T,NP_001096.1:p.Gly328Val,NC_000002.11:g.158622516C>A,ENST00000434821.1:c.983G>T | missense_variant |
| 2280 | ACVR1 | G328W GLY328TRP | NM_001105.4:c.982G>T,NP_001096.1:p.Gly328Trp,NC_000002.11:g.158622517C>A,ENST00000263640.3:c.982G>T | missense_variant |
| 3662 | ACVR1 | G356D | ||
| 2061 | ACVR1 | Gain-of-Function | ||
| 2983 | ACVR1 | Mutation | ||
| 3661 | ACVR1 | R206H | ||
| 3702 | AFAP1::NTRK2 | Fusion AFAP1-NTRK2 | transcript_fusion | |
| 2577 | AGGF1::PDGFRB | Fusion AGGF1-PDGFRB | transcript_fusion | |
| 285 | AGK::BRAF | Fusion AGK-BRAF | transcript_fusion | |
| 373 | AGR2 | EXPRESSION | ||
| 184 | AKAP9::BRAF | Fusion AKAP9-BRAF | transcript_fusion | |
| 4 | AKT1 | E17K GLU17LYS,RS34409589 | NC_000014.8:g.105246551C>T,NM_001014432.1:c.49G>A,NP_001014432.1:p.Glu17Lys,ENST00000407796.2:c.49G>A | missense_variant |
| 4906 | AKT1 | Mutation | ||
| 2360 | AKT1 | Overexpression | ||
| 169 | AKT1 | Q79K Q17K,GLN79LYS,RS1057519804 | NC_000014.8:g.105243048G>T,NM_001014432.1:c.235C>A,NP_001014432.1:p.Gln79Lys,ENST00000407796.2:c.235C>A | missense_variant |
| 3257 | AKT1 | S473 Phosphorylation | ||
| 635 | AKT2 | Amplification | transcript_amplification | |
| 278 | AKT2 | EXPRESSION | ||
| 4990 | AKT2 | Mutation | ||
| 1227 | AKT3 | E17K RS397514606,GLU17LYS | NM_001206729.1:c.49G>A,NP_001193658.1:p.Glu17Lys,NC_000001.10:g.243859016C>T,ENST00000366539.1:c.49G>A | missense_variant |
| 1301 | AKT3 | Overexpression |