ETV6

ETS variant transcription factor 6

Summary

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]

Known Variants297 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs764657313	12:11,803,033	G/A	—	uncertain significance
rs765078205	12:11,803,055	G/A	—	likely benign
rs1863862351	12:11,803,067	T/C	—	likely benign
rs1863862591	12:11,803,078	C/A	—	conflicting classifications of pathogenicity
rs921592943	12:11,803,084	G/T	—	uncertain significance
rs2497445719	12:11,803,095	G/A	—	likely pathogenic
rs1168906954	12:11,803,101	A/G	—	likely benign
rs746139322	12:11,803,104	T/A	—	likely benign
rs770126047	12:11,803,106	C/T	—	likely benign
rs776063722	12:11,803,108	C/T	—	likely benign
rs749600082	12:11,803,109	C/T	—	likely benign
rs1022540137	12:11,803,114	C/T	—	likely benign
rs2856305	12:11,803,220	A/C	—	benign
rs2541135	12:11,803,228	A/G	—	benign
rs573826637	12:11,803,279	C/G	—	likely benign
rs139273519	12:11,803,303	G/C	—	benign
rs183177395	12:11,803,331	T/C	—	likely benign
rs2541134	12:11,803,354	A/G	—	benign
rs78053111	12:11,803,387	T/C	—	likely benign
rs192078613	12:11,803,400	C/T	—	likely benign
rs7297979	12:11,813,556	A/G	intron variant	—
rs2724625	12:11,830,518	G/C	intron variant	—
rs34038917	12:11,830,793	C/T	intron variant	—
rs2187642	12:11,855,624	A/C	intron variant	—
rs2856321	12:11,855,773	G/A	intron variant	—
rs2856322	12:11,856,476	T/A	—	—
rs2860431	12:11,866,063	G/A	—	—
rs2724635	12:11,899,973	G/C	—	—
rs141390009	12:11,905,070	G/A	—	likely benign
rs2121067248	12:11,905,376	T/G	—	uncertain significance
rs369044119	12:11,905,377	T/C	—	benign
rs781494988	12:11,905,391	G/A	—	uncertain significance
rs746119985	12:11,905,399	T/C	—	uncertain significance
rs144055004	12:11,905,401	T/C	—	conflicting classifications of pathogenicity
rs2121067453	12:11,905,405	C/A	—	uncertain significance
rs147305258	12:11,905,407	T/C	—	likely benign
rs139212214	12:11,905,412	A/G	—	uncertain significance
rs143194205	12:11,905,422	G/A	—	likely benign
rs550013624	12:11,905,424	C/T	—	conflicting classifications of pathogenicity
rs776389717	12:11,905,425	G/A	—	likely benign
rs150858928	12:11,905,427	G/C	—	conflicting classifications of pathogenicity
rs765354372	12:11,905,431	C/T	—	conflicting classifications of pathogenicity
rs34966596	12:11,905,432	G/A	—	conflicting classifications of pathogenicity
rs1866052380	12:11,905,438	T/G	—	uncertain significance
rs764237239	12:11,905,439	C/T	—	uncertain significance
rs149994836	12:11,905,442	C/T	—	uncertain significance
rs201801905	12:11,905,443	G/A	—	likely benign
rs201002416	12:11,905,446	A/C	—	likely benign
rs1555123823	12:11,905,448	T/A	—	uncertain significance
rs1437620013	12:11,905,451	A/G	—	uncertain significance
rs767627393	12:11,905,452	T/G	—	uncertain significance
rs2497702436	12:11,905,453	G/A	—	uncertain significance
rs144209028	12:11,905,466	G/A	—	conflicting classifications of pathogenicity
rs576945965	12:11,905,469	C/T	—	likely benign
rs199863871	12:11,905,474	A/G	—	uncertain significance
rs781022272	12:11,905,489	T/G	—	uncertain significance
rs768891310	12:11,905,495	C/T	—	uncertain significance
rs1007158603	12:11,905,496	G/A	—	conflicting classifications of pathogenicity
rs774396176	12:11,905,505	C/T	—	conflicting classifications of pathogenicity
rs1866055526	12:11,905,508	A/G	—	uncertain significance
rs1866056028	12:11,905,514	G/A	—	likely pathogenic
rs377058061	12:11,905,523	C/T	—	likely benign
rs539765123	12:11,905,530	C/T	—	likely benign
rs777302432	12:11,905,531	G/A	—	likely benign
rs2724601	12:11,905,668	A/G	—	benign
rs72552358	12:11,905,675	T/C	—	benign
rs2051526	12:11,907,128	C/T	intron variant	—
rs73292433	12:11,942,525	G/A	—	—
rs2856329	12:11,942,720	C/T	intron variant	—
rs2213177	12:11,960,872	A/T	—	—
rs7314811	12:11,962,573	T/G	—	—
rs2497924659	12:11,992,054	C/T	—	likely benign
rs200102591	12:11,992,057	C/T	—	benign
rs1946354736	12:11,992,058	A/G	—	likely benign
rs2497924710	12:11,992,063	C/T	—	likely benign
rs2497924763	12:11,992,076	T/C	—	likely benign
rs1278146731	12:11,992,078	G/A	—	likely benign
rs761341064	12:11,992,081	G/A	—	likely benign
rs750118818	12:11,992,084	A/C	—	likely benign
rs553200577	12:11,992,105	C/T	—	likely benign
rs139975161	12:11,992,106	G/A	—	uncertain significance
rs2497924896	12:11,992,110	C/A	—	uncertain significance
rs202004830	12:11,992,114	G/C	—	conflicting classifications of pathogenicity
rs1453904386	12:11,992,120	C/T	—	likely benign
rs121434637	12:11,992,136	G/T	stop gained	pathogenic
rs1591710563	12:11,992,139	T/C	—	uncertain significance
rs202244621	12:11,992,154	A/G	—	uncertain significance
rs758542723	12:11,992,161	G/C	—	uncertain significance
rs11611479	12:11,992,168	G/A	—	benign
rs767103229	12:11,992,221	A/G	—	uncertain significance
rs1946357179	12:11,992,223	C/T	—	likely pathogenic
rs2497925453	12:11,992,239	G/T	—	likely pathogenic
rs142441364	12:11,992,545	G/A	—	likely benign
rs113768037	12:12,006,062	A/C	—	benign
rs776304577	12:12,006,341	C/G	—	likely benign
rs762048190	12:12,006,346	C/A	—	likely benign
rs1350209920	12:12,006,352	T/C	—	likely benign
rs752427976	12:12,006,357	C/A	—	uncertain significance
rs2497981883	12:12,006,359	A/G	—	likely pathogenic
rs2497981904	12:12,006,365	T/C	—	likely benign

Showing 100 of 297 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.