PHACTR1

phosphatase and actin regulator 1

Summary

The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

Known Variants103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs928863874	6:12,749,935	A/G	—	uncertain significance
rs760163672	6:12,749,936	T/C	—	uncertain significance
rs868040089	6:12,749,962	C/G	—	likely pathogenic
rs2546854642	6:12,749,963	G/T	—	uncertain significance
rs199546311	6:12,749,973	C/T	—	likely benign
rs1305654074	6:12,749,978	C/A	—	uncertain significance
rs2546854717	6:12,749,981	C/G	—	likely pathogenic
rs200383533	6:12,750,013	C/A	—	uncertain significance
rs1427631629	6:12,758,946	C/G	—	uncertain significance
rs9463138	6:12,803,792	A/G	intron variant	—
rs2026458	6:12,825,874	C/G	—	—
rs9381439	6:12,849,678	G/A	intron variant	—
rs1332844	6:12,889,004	C/T	intron variant	—
rs35355695	6:12,891,103	G/T	intron variant	—
rs9369640	6:12,901,441	C/A	intron variant	—
rs4714955	6:12,903,435	C/A	—	—
rs9349379	6:12,903,957	A/G	intron variant	benign
rs12526453	6:12,927,544	C/G	intron variant	—
rs144313630	6:12,933,912	G/A	—	benign
rs139710456	6:12,934,045	C/T	—	likely benign
rs7739181	6:12,934,687	G/A	downstream gene variant	—
rs7774403	6:12,950,751	G/A	intron variant	—
rs35056688	6:12,955,104	C/T	intron variant	—
rs6458568	6:12,961,672	A/G	intron variant	—
rs13211739	6:12,962,995	A/G	regulatory region variant	—
rs185156066	6:12,970,056	A/T	intron variant	—
rs36100854	6:12,977,851	G/A	intron variant	—
rs2547502900	6:13,014,177	G/T	—	uncertain significance
rs962079940	6:13,014,238	G/A	—	likely benign
rs994802085	6:13,014,239	C/A	—	benign
rs145145067	6:13,014,262	G/T	—	benign
rs1799820002	6:13,014,338	A/G	—	uncertain significance
rs4715064	6:13,029,514	C/T	intron variant	—
rs35776201	6:13,030,350	G/A	intron variant	—
rs34267578	6:13,032,449	T/C	intron variant	—
rs767982489	6:13,053,621	C/T	—	uncertain significance
rs373688362	6:13,053,640	C/T	—	likely benign
rs141282814	6:13,053,643	C/T	—	likely benign
rs754343376	6:13,053,753	C/G	—	uncertain significance
rs13200673	6:13,097,308	T/C	intron variant	—
rs1204518733	6:13,160,466	G/A	—	uncertain significance
rs2547951662	6:13,160,490	G/A	—	uncertain significance
rs1758797444	6:13,160,510	G/A	—	uncertain significance
rs13196010	6:13,164,218	G/C	intron variant	—
rs9357620	6:13,170,634	T/C	intron variant	—
rs2113720727	6:13,182,732	C/G	—	likely benign
rs749820467	6:13,182,769	C/G	—	uncertain significance
rs991796097	6:13,182,775	A/C	—	uncertain significance
rs1157374830	6:13,182,818	G/A	—	likely benign
rs143168559	6:13,182,928	C/T	—	likely benign
rs9381810	6:13,183,121	T/C	intron variant	—
rs9381812	6:13,183,998	A/G	intron variant	—
rs761790090	6:13,185,096	C/G	—	uncertain significance
rs77998548	6:13,185,107	A/C	—	benign
rs78929850	6:13,185,159	G/T	—	benign
rs1762647053	6:13,185,165	C/A	—	uncertain significance
rs1322402598	6:13,185,178	T/A	—	uncertain significance
rs9367369	6:13,189,941	A/T	—	—
rs373195107	6:13,206,099	G/T	—	likely benign
rs80070708	6:13,206,132	C/T	—	likely benign
rs369952844	6:13,206,160	T/C	—	uncertain significance
rs1475314942	6:13,206,211	A/G	—	uncertain significance
rs534478686	6:13,206,222	C/T	—	likely benign
rs772377879	6:13,206,250	G/A	—	uncertain significance
rs73725623	6:13,206,282	C/T	—	benign
rs376549077	6:13,206,302	C/T	—	uncertain significance
rs749324917	6:13,206,324	C/A	—	uncertain significance
rs2548114527	6:13,206,346	A/G	—	uncertain significance
rs61745587	6:13,206,357	G/A	—	likely benign
rs4715166	6:13,216,058	A/G	downstream gene variant	—
rs12195574	6:13,225,971	G/A	intron variant	—
rs1770051610	6:13,228,061	G/C	—	uncertain significance
rs1770056234	6:13,228,089	C/G	—	uncertain significance
rs1267979162	6:13,228,104	G/A	—	uncertain significance
rs1280924287	6:13,228,156	G/T	—	likely benign
rs1770073970	6:13,228,162	T/G	—	likely benign
rs139729794	6:13,228,216	C/T	—	likely benign
rs200995179	6:13,228,267	C/T	—	likely benign
rs765015756	6:13,228,268	G/A	—	uncertain significance
rs762931495	6:13,228,273	C/T	—	likely benign
rs774700729	6:13,228,276	C/T	—	likely benign
rs756423380	6:13,230,286	G/T	—	uncertain significance
rs1468591163	6:13,230,290	G/C	—	likely benign
rs1268550417	6:13,230,294	G/A	—	likely benign
rs1273417376	6:13,230,312	C/G	—	likely pathogenic
rs2548200019	6:13,230,334	A/G	—	uncertain significance
rs146889071	6:13,230,369	G/A	—	benign
rs2548200517	6:13,230,422	C/T	—	uncertain significance
rs1223397	6:13,270,945	G/C	intron variant	—
rs745969587	6:13,273,087	C/T	—	likely benign
rs185255302	6:13,273,088	G/A	—	benign
rs2127450867	6:13,273,096	C/A	—	pathogenic
rs1562103192	6:13,273,136	A/T	—	pathogenic
rs773706973	6:13,278,503	G/A	—	uncertain significance
rs2127468177	6:13,278,506	A/G	—	uncertain significance
rs1562114406	6:13,278,551	T/C	—	pathogenic
rs748743403	6:13,283,705	C/T	—	uncertain significance
rs532711531	6:13,283,767	G/A	—	likely benign
rs2548394138	6:13,283,770	G/T	—	uncertain significance
rs752803290	6:13,283,780	A/T	—	likely benign

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.