EPAS1

endothelial PAS domain protein 1

Summary

This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]

Known Variants1,280 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs151197089	2:46,524,290	G/C	—	benign
rs570291540	2:46,524,390	T/C	—	benign
rs184614491	2:46,524,403	G/C	—	benign
rs188057474	2:46,524,412	G/A	—	benign
rs886056075	2:46,524,579	G/A	—	uncertain significance
rs17039192	2:46,524,580	C/T	regulatory region variant	benign
rs886056076	2:46,524,599	A/C	—	uncertain significance
rs1682903258	2:46,524,650	G/A	—	uncertain significance
rs1028727219	2:46,524,694	G/C	—	uncertain significance
rs192684713	2:46,524,704	T/G	—	uncertain significance
rs886056078	2:46,524,735	C/A	—	uncertain significance
rs886056079	2:46,524,796	G/T	—	uncertain significance
rs977976338	2:46,524,814	C/G	—	uncertain significance
rs750848838	2:46,524,820	C/G	—	uncertain significance
rs886056080	2:46,524,851	A/C	—	uncertain significance
rs147597862	2:46,524,911	G/A	—	benign
rs886056081	2:46,524,913	G/T	—	uncertain significance
rs530436826	2:46,524,940	G/C	—	uncertain significance
rs886056082	2:46,524,949	C/G	—	uncertain significance
rs957930899	2:46,524,959	G/A	—	uncertain significance
rs886056083	2:46,524,965	C/T	—	uncertain significance
rs535202677	2:46,525,047	G/A	—	likely benign
rs1682917291	2:46,525,050	A/G	—	uncertain significance
rs1027294803	2:46,525,056	A/C	—	likely benign
rs759895556	2:46,525,057	G/A	—	likely benign
rs1219410135	2:46,525,059	T/G	—	likely benign
rs1158312540	2:46,525,064	A/G	—	uncertain significance
rs763563822	2:46,525,065	G/A	—	likely benign
rs1558578534	2:46,525,066	G/A	—	uncertain significance
rs1167162271	2:46,525,071	G/A	—	likely benign
rs1219658245	2:46,525,074	A/G	—	likely benign
rs764477794	2:46,525,083	G/C	—	benign
rs750007571	2:46,525,084	G/A	—	uncertain significance
rs373074968	2:46,525,088	T/C	—	benign
rs73926251	2:46,525,255	G/A	—	benign
rs1867787	2:46,525,391	C/G	—	benign
rs11125068	2:46,527,816	A/G	regulatory region variant	—
rs11894252	2:46,533,376	T/C	regulatory region variant	—
rs11684885	2:46,533,552	T/C	—	—
rs7579899	2:46,537,604	A/T	—	—
rs7582701	2:46,550,769	G/T	—	—
rs13419896	2:46,556,345	G/A	intron variant	—
rs9679290	2:46,557,644	G/C	regulatory region variant	—
rs4953346	2:46,558,208	T/A	—	—
rs12617313	2:46,559,776	A/T	regulatory region variant	—
rs2546439730	2:46,574,013	A/T	—	uncertain significance
rs536627622	2:46,574,017	G/A	—	uncertain significance
rs376889179	2:46,574,020	C/T	—	likely benign
rs745916461	2:46,574,021	G/A	—	likely benign
rs73926269	2:46,574,026	G/A	—	conflicting classifications of pathogenicity
rs2546439756	2:46,574,027	G/C	—	uncertain significance
rs2546439770	2:46,574,033	G/A	—	likely benign
rs1171890370	2:46,574,036	G/T	—	uncertain significance
rs1401881272	2:46,574,039	G/A	—	likely benign
rs2103616118	2:46,574,041	C/A	—	uncertain significance
rs1394833849	2:46,574,043	C/G	—	uncertain significance
rs780192014	2:46,574,048	T/C	—	likely benign
rs1341157277	2:46,574,050	C/T	—	uncertain significance
rs749668860	2:46,574,051	T/C	—	likely benign
rs1219457249	2:46,574,054	G/A	—	likely benign
rs2103616148	2:46,574,059	G/C	—	uncertain significance
rs1684040885	2:46,574,061	C/T	—	uncertain significance
rs1684040937	2:46,574,062	G/A	—	uncertain significance
rs2103616163	2:46,574,063	G/A	—	likely benign
rs2103616168	2:46,574,064	C/A	—	likely benign
rs2103616174	2:46,574,065	G/A	—	uncertain significance
rs2546439835	2:46,574,069	C/G	—	uncertain significance
rs2546439837	2:46,574,070	A/G	—	uncertain significance
rs2103616184	2:46,574,072	G/A	—	likely benign
rs774946498	2:46,574,075	G/A	—	likely benign
rs1202116125	2:46,574,077	C/T	—	uncertain significance
rs370020998	2:46,574,078	G/A	—	likely benign
rs1684041216	2:46,574,080	A/C	—	uncertain significance
rs772679458	2:46,574,081	G/A	—	likely benign
rs759108016	2:46,574,084	G/T	—	likely benign
rs1684041473	2:46,574,087	C/T	—	likely benign
rs2546439870	2:46,574,088	T/C	—	uncertain significance
rs1477954904	2:46,574,089	A/T	—	uncertain significance
rs2103616208	2:46,574,092	A/C	—	uncertain significance
rs2546439910	2:46,574,102	T/C	—	likely benign
rs2546439918	2:46,574,107	T/G	—	uncertain significance
rs2546439920	2:46,574,108	G/T	—	likely benign
rs2103616238	2:46,574,109	C/A	—	uncertain significance
rs752221582	2:46,574,112	C/G	—	uncertain significance
rs1684041711	2:46,574,114	G/A	—	likely benign
rs2546439942	2:46,574,116	C/T	—	uncertain significance
rs566608329	2:46,574,117	C/G	—	likely benign
rs766269051	2:46,574,118	C/G	—	uncertain significance
rs1327240487	2:46,574,120	C/T	—	likely benign
rs2546439957	2:46,574,121	A/T	—	uncertain significance
rs1376666026	2:46,574,122	G/A	—	uncertain significance
rs1419595958	2:46,574,123	T/C	—	likely benign
rs2546439975	2:46,574,125	T/G	—	uncertain significance
rs149898744	2:46,574,131	C/A	—	conflicting classifications of pathogenicity
rs2103616288	2:46,574,134	A/T	—	uncertain significance
rs1392803714	2:46,574,136	C/T	—	likely benign
rs1684043191	2:46,574,144	G/A	—	likely benign
rs528826650	2:46,574,147	C/T	—	likely benign
rs1684043368	2:46,574,154	A/G	—	uncertain significance
rs2103616311	2:46,574,157	C/A	—	likely benign

Showing 100 of 1,280 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.