CAMTA1

calmodulin binding transcription activator 1

Summary

The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]

Known Variants586 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1638882060	1:6,845,591	A/G	—	uncertain significance
rs1181493958	1:6,845,605	G/A	—	likely benign
rs1174522704	1:6,845,629	C/T	—	uncertain significance
rs1462811868	1:6,845,640	G/C	—	uncertain significance
rs1262386246	1:6,845,644	C/T	—	likely benign
rs1021927803	1:6,845,652	G/T	—	likely benign
rs1183357372	1:6,845,653	A/G	—	likely benign
rs11122148	1:6,848,505	C/A	upstream gene variant	—
rs561419587	1:6,858,812	G/A	—	—
rs192484863	1:6,858,845	A/G	intron variant	—
rs11122154	1:6,858,858	T/C	—	—
rs11122156	1:6,864,187	T/A	—	—
rs2148291677	1:6,867,114	A/C	—	likely benign
rs572304401	1:6,880,244	G/A	—	likely benign
rs149423434	1:6,880,304	A/G	—	uncertain significance
rs1646960047	1:6,885,158	A/G	—	uncertain significance
rs1553156387	1:6,885,189	C/G	—	uncertain significance
rs879255532	1:6,885,190	T/A	—	uncertain significance
rs2524177832	1:6,885,200	A/G	—	uncertain significance
rs763307751	1:6,885,210	T/G	—	likely benign
rs141738594	1:6,885,234	T/C	—	benign
rs766218807	1:6,885,237	A/G	—	likely benign
rs1064796110	1:6,885,253	C/T	—	uncertain significance
rs1557636777	1:6,885,265	A/G	—	uncertain significance
rs2524179873	1:6,885,267	T/G	—	uncertain significance
rs1049041921	1:6,885,270	G/A	—	likely pathogenic
rs547105933	1:6,885,275	A/T	—	likely benign
rs150579824	1:6,885,286	T/C	—	benign
rs3810982	1:6,947,717	C/T	—	benign
rs765307011	1:6,947,740	C/T	—	likely benign
rs2275907	1:7,068,367	C/T	downstream gene variant	—
rs11120822	1:7,113,112	G/C	intron variant	—
rs2523687724	1:7,151,361	C/T	—	uncertain significance
rs1641438018	1:7,151,370	G/A	—	uncertain significance
rs146654528	1:7,151,399	C/T	—	likely benign
rs4908449	1:7,292,700	T/C	intron variant	—
rs2523958808	1:7,309,544	T/C	—	likely benign
rs1553288180	1:7,309,565	C/G	—	likely pathogenic
rs765321824	1:7,309,567	A/G	—	uncertain significance
rs2149302838	1:7,309,570	A/G	—	uncertain significance
rs184689680	1:7,309,611	G/A	—	benign
rs745529812	1:7,309,643	C/T	—	uncertain significance
rs2523961227	1:7,309,648	A/G	—	uncertain significance
rs2149303071	1:7,309,651	G/A	—	pathogenic
rs2149303084	1:7,309,652	A/G	—	pathogenic
rs2149303100	1:7,309,655	A/G	—	uncertain significance
rs779649844	1:7,309,659	C/T	—	likely benign
rs1666321359	1:7,309,671	G/C	—	pathogenic
rs2523961849	1:7,309,681	G/A	—	uncertain significance
rs2149303175	1:7,309,687	G/A	—	likely pathogenic
rs199998678	1:7,309,702	G/T	—	likely benign
rs536529755	1:7,430,221	T/C	—	benign
rs997317904	1:7,467,132	C/T	—	uncertain significance
rs1616122	1:7,521,585	C/G	—	—
rs754448608	1:7,527,871	G/A	—	likely benign
rs918660621	1:7,527,886	C/G	—	likely benign
rs930078153	1:7,527,892	C/T	—	uncertain significance
rs1085307781	1:7,527,933	T/C	—	uncertain significance
rs2523535627	1:7,527,938	C/G	—	likely pathogenic
rs2149542191	1:7,527,939	G/A	—	likely pathogenic
rs2523535823	1:7,527,952	G/A	—	pathogenic
rs1575481339	1:7,527,957	T/C	—	uncertain significance
rs1575481422	1:7,527,969	G/A	—	likely benign
rs1223783029	1:7,527,970	C/T	—	likely benign
rs369914699	1:7,527,972	G/A	—	likely benign
rs1201529	1:7,527,996	T/C	—	benign
rs1149332	1:7,528,846	C/T	intron variant	—
rs1149336	1:7,532,290	C/T	regulatory region variant	—
rs1204754	1:7,545,753	C/A	—	—
rs142872577	1:7,622,459	C/G	—	—
rs371053060	1:7,700,450	C/T	—	likely benign
rs185976689	1:7,700,455	C/T	—	likely benign
rs2095751954	1:7,700,459	G/A	—	pathogenic
rs775725704	1:7,700,465	C/T	—	likely benign
rs2523091544	1:7,700,482	A/G	—	uncertain significance
rs2148933817	1:7,700,484	T/G	—	uncertain significance
rs1576542679	1:7,700,486	C/T	—	likely benign
rs114268215	1:7,700,498	G/A	—	likely benign
rs761038455	1:7,700,504	C/T	—	likely benign
rs146417182	1:7,700,514	G/A	—	likely benign
rs2523093124	1:7,700,524	G/A	—	uncertain significance
rs757970256	1:7,700,525	C/A	—	pathogenic
rs2523094102	1:7,700,555	C/A	—	uncertain significance
rs1553231167	1:7,700,562	G/T	—	pathogenic
rs2523095165	1:7,700,587	A/C	—	uncertain significance
rs2523095464	1:7,700,595	G/T	—	uncertain significance
rs1064796318	1:7,700,618	G/A	—	uncertain significance
rs372272982	1:7,700,621	G/T	—	likely benign
rs3011925	1:7,721,360	G/A	intron variant	—
rs771326965	1:7,721,770	G/A	—	likely benign
rs762627582	1:7,721,803	A/T	—	uncertain significance
rs1038376650	1:7,721,820	C/G	—	uncertain significance
rs1434924870	1:7,721,821	A/G	—	uncertain significance
rs761447240	1:7,721,833	T/C	—	uncertain significance
rs755920468	1:7,721,839	G/A	—	uncertain significance
rs139873665	1:7,721,865	C/T	—	likely benign
rs1553238271	1:7,721,887	C/T	—	pathogenic
rs746398137	1:7,721,892	G/A	—	likely benign
rs201450641	1:7,721,903	A/G	—	uncertain significance
rs377334407	1:7,721,916	C/T	—	likely benign

Showing 100 of 586 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.