ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

Summary

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

Known Variants537 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs779924943	9:133,589,722	G/A	—	likely benign
rs375730000	9:133,589,726	A/G	—	conflicting classifications of pathogenicity
rs772507277	9:133,589,732	T/C	—	likely benign
rs1424504681	9:133,589,735	G/A	—	uncertain significance
rs2490826564	9:133,589,744	G/A	—	uncertain significance
rs2132661737	9:133,589,763	C/T	—	likely benign
rs763770178	9:133,589,811	G/A	—	likely benign
rs1427391542	9:133,589,814	T/A	—	likely benign
rs768804405	9:133,589,855	C/A	—	likely benign
rs774348929	9:133,589,861	T/G	—	likely benign
rs2791733	9:133,623,966	C/T	—	—
rs2791734	9:133,627,890	C/G	intron variant	—
rs2791736	9:133,628,655	C/G	—	—
rs2791737	9:133,632,758	A/C	—	—
rs2791738	9:133,633,507	A/G	intron variant	—
rs2313532	9:133,635,321	G/T	—	—
rs2855170	9:133,637,470	T/G	—	—
rs946486	9:133,646,005	C/A	—	—
rs192318877	9:133,661,824	A/T	regulatory region variant	—
rs187244168	9:133,662,663	T/A	intron variant	—
rs2855192	9:133,728,051	G/A	intron variant	—
rs769190823	9:133,729,434	C/G	—	likely benign
rs774938014	9:133,729,437	C/G	—	likely benign
rs1380381165	9:133,729,439	T/C	—	likely benign
rs767291130	9:133,729,449	A/G	—	likely benign
rs368476764	9:133,729,463	G/A	—	likely benign
rs1830934244	9:133,729,480	T/G	—	uncertain significance
rs1462486613	9:133,729,487	C/G	—	uncertain significance
rs61741003	9:133,729,499	G/A	—	benign
rs765809121	9:133,729,506	C/T	—	likely benign
rs1318764515	9:133,729,507	G/A	—	uncertain significance
rs376529913	9:133,729,511	G/A	—	benign
rs2132956266	9:133,729,514	G/C	—	likely pathogenic
rs369393102	9:133,729,537	G/A	—	likely benign
rs143047485	9:133,729,540	G/A	—	uncertain significance
rs771770653	9:133,729,548	T/C	—	likely benign
rs773005950	9:133,729,554	T/C	—	likely benign
rs2132956429	9:133,729,559	C/T	—	uncertain significance
rs372724991	9:133,729,569	C/T	—	likely benign
rs2490672671	9:133,729,575	A/G	—	likely benign
rs111886835	9:133,729,620	T/G	—	likely benign
rs1830937170	9:133,729,638	G/A	—	likely benign
rs757304525	9:133,730,183	C/T	—	uncertain significance
rs375582718	9:133,730,199	C/T	—	uncertain significance
rs370776549	9:133,730,201	G/A	—	benign
rs373877460	9:133,730,202	G/T	—	uncertain significance
rs2132957699	9:133,730,204	C/G	—	likely benign
rs368589654	9:133,730,212	A/G	—	likely benign
rs753490709	9:133,730,216	T/A	—	likely benign
rs587778016	9:133,730,221	A/G	—	likely benign
rs370897942	9:133,730,225	G/C	—	likely benign
rs1830947762	9:133,730,226	G/T	—	likely pathogenic
rs1830947813	9:133,730,229	T/C	—	likely pathogenic
rs2132957851	9:133,730,245	C/G	—	uncertain significance
rs2132957976	9:133,730,282	C/T	—	likely benign
rs1830948350	9:133,730,284	C/T	—	conflicting classifications of pathogenicity
rs141072111	9:133,730,285	G/A	—	benign
rs1830948619	9:133,730,293	A/C	—	uncertain significance
rs770884302	9:133,730,300	G/A	—	likely benign
rs1042889963	9:133,730,301	G/C	—	uncertain significance
rs1002305388	9:133,730,312	C/T	—	likely benign
rs2490674654	9:133,730,313	T/G	—	uncertain significance
rs2490674662	9:133,730,315	G/A	—	uncertain significance
rs1830949057	9:133,730,321	T/C	—	likely benign
rs746147456	9:133,730,324	G/C	—	likely benign
rs770132360	9:133,730,342	C/T	—	benign
rs775748939	9:133,730,343	G/T	—	benign
rs199515879	9:133,730,363	C/T	—	benign
rs774952482	9:133,730,371	A/G	—	uncertain significance
rs146963680	9:133,730,391	G/C	—	uncertain significance
rs2132958367	9:133,730,407	C/T	—	uncertain significance
rs1234864925	9:133,730,420	C/T	—	likely benign
rs148161029	9:133,730,435	C/T	—	benign
rs2490675211	9:133,730,473	C/T	—	uncertain significance
rs143666455	9:133,730,478	G/A	—	uncertain significance
rs1166916976	9:133,730,487	G/A	—	uncertain significance
rs2490675267	9:133,730,491	A/G	—	likely benign
rs762122930	9:133,730,497	G/A	—	likely benign
rs750336311	9:133,738,143	C/T	—	likely benign
rs1368132260	9:133,738,150	C/T	—	uncertain significance
rs1027274279	9:133,738,155	C/T	—	likely benign
rs756003964	9:133,738,156	G/A	—	uncertain significance
rs779645963	9:133,738,161	C/T	—	benign
rs1831095170	9:133,738,170	C/A	—	uncertain significance
rs1205914307	9:133,738,182	C/G	—	likely benign
rs150134901	9:133,738,189	G/A	—	conflicting classifications of pathogenicity
rs538889953	9:133,738,192	T/C	—	likely benign
rs1367135710	9:133,738,195	G/A	—	uncertain significance
rs976094954	9:133,738,197	T/G	—	likely benign
rs773957143	9:133,738,206	T/C	—	likely benign
rs1308052764	9:133,738,210	A/G	—	likely benign
rs1831096681	9:133,738,215	G/A	—	likely benign
rs767096186	9:133,738,218	C/T	—	likely benign
rs1831096815	9:133,738,219	G/A	—	uncertain significance
rs372729748	9:133,738,221	C/T	—	benign
rs756057097	9:133,738,230	C/T	—	likely benign
rs909306692	9:133,738,235	C/T	—	uncertain significance
rs1229072821	9:133,738,244	A/T	—	uncertain significance
rs56271006	9:133,738,259	G/A	—	benign
rs1221077295	9:133,738,266	G/A	—	likely benign

Showing 100 of 537 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.