ABL1

CIViC ID: 4 · Entrez: 25

Aliases: ABL,JTK7,bcr/abl,c-ABL,c-ABL1,p150,v-abl,ABL1,BCR-ABL,CHDSKM

Description

ABL1 is most relevant to cancer in its role in the BCR-ABL fusion protein that has become a signature of chronic myeloid leukemia (CML). Cells harboring this fusion have shown sensitivity to imatinib, greatly improving the prognostic outlook of the disease. However, additional mutations in ABL1 have been shown to confer resistance to imatinib. In these resistance cases, second-generation tyrosine kinase inhibitors such as dasatinib and nilotinib have exhibited some efficacy and are currently undergoing clinical trials for treating acquired resistance in CML.

Cyan = gene · Slate = variant · Green = drug · Click variant to filter table

Variants (68)

CIViC ID	Name	HGVS	Type(s)
4636	A397P A416P,ALA397PRO	ENST00000318560.5:c.1189G>C,NC_000009.11:g.133750358G>C,NM_005157.5:c.1189G>C,NP_005148.2:p.Ala397Pro	missense_variant
1639	C475V CYS475VAL	ENST00000318560.5:c.1423_1424delinsGT,NC_000009.11:g.133753954_133755455delinsGT,NM_005157.6:c.1423_1424delinsGT	splice_donor_variant
4218	D276G RS121913447,ASP276GLY,D295G	ENST00000318560.5:c.827A>G,NP_005148.2:p.Asp276Gly,NM_005157.5:c.827A>G,NC_000009.11:g.133747520A>G	missense_variant
4637	D363G Asp363Gly		missense_variant
4638	D421G ASP421GLY		missense_variant
3009	Double Ph DOUBLE PHILADELPHIA CHROMOSOME
3	E255K E274K,RS121913448	NC_000009.11:g.133738363G>A,NM_005157.5:c.763G>A,NP_005148.2:p.Glu255Lys,ENST00000318560.5:c.763G>A	missense_variant
4606	E255V RS121913449,GLU255VAL	NM_005157.5:c.764A>T,NP_005148.2:p.Glu255Val,NC_000009.11:g.133738364A>T,ENST00000318560.5:c.764A>T	missense_variant
1526	E279K GLU279LYS,E298K	ENST00000318560.5:c.835G>A,NC_000009.11:g.133747528G>A,NM_005157.5:c.835G>A,NP_005148.2:p.Glu279Lys	missense_variant
2887	E292L GLY292LEU		missense_variant
1183	E292V E311V,GLU311VAL,GLU292VAL	ENST00000318560.5:c.875A>T,NC_000009.11:g.133747568A>T,NM_005157.5:c.875A>T,NP_005148.2:p.Glu292Val	missense_variant
4609	E355G RS121913450,GLU355GLY	NM_005157.5:c.1064A>G,NP_005148.2:p.Glu355Gly,NC_000009.11:g.133748403A>G,ENST00000318560.5:c.1064A>G	missense_variant
1618	E450Q E469Q,GLU450GLN	ENST00000318560.5:c.1348G>C,NC_000009.11:g.133753879G>C,NM_005157.5:c.1348G>C,NP_005148.2:p.Glu450Gln	missense_variant
1534	E450V E469V,GLU450VAL	ENST00000318560.5:c.1349A>T,NC_000009.11:g.133753880A>T,NM_005157.5:c.1349A>T,NP_005148.2:p.Glu450Val	missense_variant
1536	E453A E472A,GLU453ALA	ENST00000318560.5:c.1358A>C,NC_000009.11:g.133753889A>C,NM_005157.5:c.1358A>C,NP_005148.2:p.Glu453Ala	missense_variant
1535	E453K E472K,GLU453LYS	ENST00000318560.5:c.1357G>A,NC_000009.11:g.133753888G>A,NM_005157.5:c.1357G>A,NP_005148.2:p.Glu453Lys	missense_variant
1509	E453Q E472Q,GLU453GLN	ENST00000318560.5:c.1357G>C,NC_000009.11:g.133753888G>C,NM_005157.5:c.1357G>C,NP_005148.2:p.Glu453Gln	missense_variant
2370	E459K RS1064156,GLU459LYS	ENST00000318560.5:c.1375G>A,NC_000009.11:g.133753906G>A,NM_005157.5:c.1375G>A,NP_005148.2:p.Glu459Lys	missense_variant
2901	E98G GLU98GLY		missense_variant
1507	F311I F330I,RS137853304	ENST00000318560.5:c.931T>A,NC_000009.11:g.133748270T>A,NM_005157.5:c.931T>A,NP_005148.2:p.Phe311Ile	missense_variant
1528	F311L RS137853304,F330L,PHE311LEU	NM_005157.5:c.931T>C,NP_005148.2:p.Phe311Leu,NC_000009.11:g.133748270T>C,ENST00000318560.5:c.931T>C	missense_variant
2359	F317C PHE317CYS,F336C,RS1057519774	ENST00000318560:c.950T>G,NC_000009.11:g.133748289T>G,NM_005157.6:c.950T>G,NP_005148.2:p.Phe317Cys	missense_variant
1625	F317I F336I,RS1057519773,PHE317ILE	NM_005157.5:c.949T>A,NP_005148.2:p.Phe317Ile,NC_000009.11:g.133748288T>A,ENST00000318560.5:c.949T>A	missense_variant
1028	F317L RS121913451,F336L,PHE317LEU,RS1057519773	NM_005157.5:c.951C>G,NP_005148.2:p.Phe317Leu,NC_000009.11:g.133748290C>G,ENST00000318560.5:c.951C>G,NC_000009.11:g.133748288T>C,NM_005157.5:c.949T>C,ENST00000318560.5:c.949T>C	missense_variant
2888	F317R PHE317ARG		missense_variant
2343	F317S PHE317SER	ENST00000318560.5:c.950T>C,NC_000009.11:g.133748289T>C,NM_005157.6:c.950T>C,NP_005148.2:p.Phe317Ser	missense_variant
1525	F317V F336V,RS1057519773	NM_005157.5:c.949T>G,NP_005148.2:p.Phe317Val,NC_000009.11:g.133748288T>G,ENST00000318560.5:c.949T>G	missense_variant
4610	F359C RS1057519775,F378C,PHE359CYS	NM_005157.5:c.1076T>G,NP_005148.2:p.Phe359Cys,NC_000009.11:g.133748415T>G,ENST00000318560.5:c.1076T>G	missense_variant
4607	F359I RS121913452,F378I,PHE359ILE	NM_005157.5:c.1075T>A,NP_005148.2:p.Phe359Ile,NC_000009.11:g.133748414T>A,ENST00000318560.5:c.1075T>A	missense_variant
4598	F359V RS121913452	NM_005157.5:c.1075T>G,NP_005148.2:p.Phe359Val,NC_000009.11:g.133748414T>G,NST00000318560.5:c.1075T>G	missense_variant
4635	F486S PHE486SER,F505S	ENST00000318560.5:c.1457T>C,NC_000009.11:g.133755488T>C,NM_005157.5:c.1457T>C,NP_005148.2:p.Phe486Ser	missense_variant
1023	G250E RS121913453,GLY250GLU	NM_005157.5:c.749G>A,NP_005148.2:p.Gly250Glu,NC_000009.11:g.133738349G>A,ENST00000318560.5:c.749G>A	missense_variant
1657	G340L GLY340LEU,Gly321Leu,G321L	NC_000009.12:g.130872913_130872914delinsCT,NC_000009.11:g.133748300_133748301delinsCT,NM_005157.6:c.961_962delinsCT,ENST00000318560.6:c.961_962delinsCT,NP_005148.2:p.Gly321Leu,ENSP00000323315.5:p.Gly321Leu	coding_sequence_variant
1233	G398R G417R,GLY398ARG,GLY417ARG	ENST00000318560.5:c.1192G>C,NC_000009.11:g.133750361G>C,NM_005157.5:c.1192G>C,NP_005148.2:p.Gly398Arg	missense_variant
1531	H396P HIS396PRO,H415P	ENST00000318560.5:c.1187A>C,NC_000009.11:g.133750356A>C,NM_005157.5:c.1187A>C,NP_005148.2:p.His396Pro	missense_variant
4611	H396R RS121913454,HIS396ARG	NM_005157.5:c.1187A>G,NP_005148.2:p.His396Arg,NC_000009.11:g.133750356A>G,ENST00000318560.5:c.1187A>G	missense_variant
2340	L248R LEU248ARG	ENST00000318560.5:c.743T>G,NC_000009.11:g.133738343T>G,NM_005157.6:c.743T>G,NP_005148.2:p.Leu248Arg	missense_variant
4632	L248V RS121913455,LEU248VAL,L267V	NM_005157.5:c.742C>G,NP_005148.2:p.Leu248Val,NC_000009.11:g.133738342C>G,ENST00000318560.5:c.742C>G	missense_variant
1506	L298V L317V,LEU298VAL	ENST00000318560.5:c.892C>G,NC_000009.11:g.133747585C>G,NM_005157.5:c.892C>G,NP_005148.2:p.Leu298Val	missense_variant
1508	L364I L383I,LEU364ILE	ENST00000318560.5:c.1090C>A,NC_000009.11:g.133750259C>A,NM_005157.5:c.1090C>A,NP_005148.2:p.Leu364Ile	missense_variant
1530	L364P L383P,LEU364PRO,LEU383PRO	ENST00000318560.5:c.1091T>C,NC_000009.11:g.133750260T>C,NM_005157.5:c.1091T>C,NP_005148.2:p.Leu364Pro	missense_variant
1230	L384M L403M,LEU403MET,LEU384MET	ENST00000318560.5:c.1150C>A,NC_000009.11:g.133750319C>A,NM_005157.5:c.1150C>A,NP_005148.2:p.Leu384Met	missense_variant
1232	L387F L406F,LEU406PHE,LEU387PHE	ENST00000318560.5:c.1161G>C,NC_000009.11:g.133750330G>C,NM_005157.5:c.1161G>C,NP_005148.2:p.Leu387Phe	missense_variant
1488	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	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	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	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	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	N146S ASN146SER		missense_variant
1529	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	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	Non-P-Loop Mutation
2375	P-Loop Mutation
1537	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	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	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	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	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	S438C S457C,SER438CYS,SER457CYS	ENST00000318560.5:c.1313C>G	missense_variant
4645	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	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	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	TKD Mutation
1604	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	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	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	Y253F
4529	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

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