ABRAXAS1

abraxas 1, BRCA1 A complex subunit

Summary

This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Known Variants601 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs368663402	4:84,383,629	G/A	—	uncertain significance
rs2529417518	4:84,383,632	G/A	—	uncertain significance
rs1325575122	4:84,383,635	G/T	—	uncertain significance
rs200281698	4:84,383,638	C/T	—	conflicting classifications of pathogenicity
rs748616526	4:84,383,639	G/A	—	uncertain significance
rs2110032712	4:84,383,641	G/A	—	uncertain significance
rs2529417567	4:84,383,645	A/T	—	uncertain significance
rs1553936008	4:84,383,646	T/C	—	likely benign
rs529156082	4:84,383,650	C/G	—	uncertain significance
rs941211611	4:84,383,651	C/T	—	uncertain significance
rs2529417600	4:84,383,654	A/C	—	uncertain significance
rs760957137	4:84,383,657	C/T	—	uncertain significance
rs1318264580	4:84,383,658	C/G	—	uncertain significance
rs1267149361	4:84,383,661	C/A	—	uncertain significance
rs766764068	4:84,383,663	T/C	—	uncertain significance
rs2529417725	4:84,383,668	T/G	—	uncertain significance
rs2110032759	4:84,383,671	A/G	—	uncertain significance
rs1560570462	4:84,383,672	T/G	—	uncertain significance
rs1205918998	4:84,383,673	T/G	—	likely benign
rs2529417760	4:84,383,676	T/G	—	uncertain significance
rs2529417774	4:84,383,680	T/C	—	uncertain significance
rs776562122	4:84,383,682	T/C	—	likely benign
rs2529417791	4:84,383,684	T/G	—	uncertain significance
rs2529417800	4:84,383,688	T/C	—	likely benign
rs759305711	4:84,383,689	G/A	—	uncertain significance
rs764951890	4:84,383,690	G/C	—	uncertain significance
rs758296226	4:84,383,694	G/A	—	likely benign
rs1553936012	4:84,383,697	C/G	—	uncertain significance
rs1158665632	4:84,383,698	A/G	—	uncertain significance
rs763567031	4:84,383,700	T/G	—	conflicting classifications of pathogenicity
rs1471089706	4:84,383,702	T/G	—	uncertain significance
rs1722159207	4:84,383,704	G/A	—	uncertain significance
rs2110032821	4:84,383,705	A/T	—	uncertain significance
rs1560570492	4:84,383,707	G/C	—	uncertain significance
rs1038252853	4:84,383,708	C/G	—	uncertain significance
rs587780264	4:84,383,713	T/C	—	uncertain significance
rs1722160124	4:84,383,715	T/G	—	uncertain significance
rs2529418052	4:84,383,721	A/G	—	likely benign
rs1298747950	4:84,383,722	C/T	—	uncertain significance
rs1722161264	4:84,383,726	T/C	—	conflicting classifications of pathogenicity
rs1351769121	4:84,383,727	A/G	—	likely benign
rs751122263	4:84,383,728	C/T	—	conflicting classifications of pathogenicity
rs756892998	4:84,383,729	C/G	—	uncertain significance
rs2529418116	4:84,383,732	T/C	—	uncertain significance
rs2529418120	4:84,383,733	A/G	—	likely benign
rs2529418126	4:84,383,734	T/C	—	uncertain significance
rs13125836	4:84,383,735	C/T	—	uncertain significance
rs2110032874	4:84,383,737	G/T	—	uncertain significance
rs1722162523	4:84,383,738	C/G	—	conflicting classifications of pathogenicity
rs1204035867	4:84,383,739	T/C	—	likely benign
rs745512435	4:84,383,740	T/G	—	uncertain significance
rs2529418174	4:84,383,741	T/G	—	uncertain significance
rs2529418180	4:84,383,743	G/A	—	uncertain significance
rs587780263	4:84,383,744	A/T	—	uncertain significance
rs755313466	4:84,383,746	C/A	—	uncertain significance
rs1560570544	4:84,383,747	G/A	—	uncertain significance
rs779168599	4:84,383,751	G/A	—	likely benign
rs1560570555	4:84,383,754	T/C	—	likely benign
rs1269730495	4:84,383,755	T/C	—	uncertain significance
rs748650098	4:84,383,757	T/C	—	likely benign
rs1422799528	4:84,383,759	T/C	—	uncertain significance
rs142910445	4:84,383,761	T/C	—	conflicting classifications of pathogenicity
rs1454883559	4:84,383,763	T/C	—	likely benign
rs1372280058	4:84,383,767	A/G	—	uncertain significance
rs771137917	4:84,383,768	A/G	—	likely benign
rs2110032948	4:84,383,769	C/T	—	likely benign
rs201627097	4:84,383,770	C/T	—	conflicting classifications of pathogenicity
rs1345611154	4:84,383,771	G/A	—	uncertain significance
rs2110032955	4:84,383,773	G/C	—	uncertain significance
rs929635919	4:84,383,775	T/C	—	likely benign
rs2529418328	4:84,383,776	C/T	—	likely benign
rs1272784538	4:84,383,778	C/T	—	likely benign
rs1344715561	4:84,383,781	G/C	—	uncertain significance
rs1215571520	4:84,383,784	T/C	—	likely benign
rs2110032968	4:84,383,786	G/T	—	uncertain significance
rs759694768	4:84,383,788	C/A	—	uncertain significance
rs1340605631	4:84,383,789	A/G	—	uncertain significance
rs2529418369	4:84,383,793	G/A	—	likely benign
rs762929045	4:84,383,794	T/C	—	uncertain significance
rs1578122280	4:84,383,795	C/T	—	uncertain significance
rs773812911	4:84,383,796	A/C	—	conflicting classifications of pathogenicity
rs1578122288	4:84,383,801	A/G	—	likely benign
rs2529418412	4:84,383,803	T/G	—	uncertain significance
rs2529418422	4:84,383,805	T/G	—	uncertain significance
rs1207122063	4:84,383,808	G/C	—	likely benign
rs1262121474	4:84,383,809	G/A	—	likely benign
rs12642536	4:84,383,810	C/A	—	likely benign
rs750046185	4:84,383,814	A/G	—	likely benign
rs2529418451	4:84,383,815	T/C	—	likely benign
rs755755614	4:84,383,816	G/A	—	uncertain significance
rs1236290730	4:84,383,817	C/T	—	likely benign
rs1722172481	4:84,383,819	T/C	—	uncertain significance
rs2529418460	4:84,383,820	A/T	—	likely benign
rs779312880	4:84,383,822	T/C	—	uncertain significance
rs1167948292	4:84,383,826	T/G	—	uncertain significance
rs1722173605	4:84,383,830	G/A	—	conflicting classifications of pathogenicity
rs367958380	4:84,383,833	G/A	—	conflicting classifications of pathogenicity
rs758969039	4:84,383,834	T/C	—	uncertain significance
rs2529418499	4:84,383,837	T/C	—	uncertain significance
rs2529418505	4:84,383,839	G/C	—	uncertain significance

Showing 100 of 601 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.