ESR1

estrogen receptor 1

Summary

This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]

Known Variants214 total

rsidPosition (GRCh37)AllelesClassClinVar
rs93839386:151,987,357G/Tintron variant—
rs17383866:151,990,235T/A——
rs1814389306:151,993,233G/Tintron variant—
rs8519876:152,007,889A/Gupstream gene variant—
rs30203316:152,008,780C/Tupstream gene variant—
rs30203326:152,008,924C/Tupstream gene variant—
rs29417416:152,008,982G/Aupstream gene variant—
rs29417406:152,009,638A/Gupstream gene variant—
rs8519846:152,023,191G/Aregulatory region variant—
rs8519826:152,024,985T/Cintron variant—
rs8519776:152,029,608T/Cintron variant—
rs11010816:152,032,917C/Tintron variant—
rs104849216:152,042,260C/T——
rs117565686:152,042,413A/G——
rs30203406:152,043,290A/Gintron variant—
rs11593276:152,048,022C/Tintron variant—
rs352401116:152,050,523G/Cintron variant—
rs30203486:152,057,914C/T——
rs29825526:152,059,563G/Aregulatory region variant—
rs19998056:152,068,364G/Aintron variant—
rs21527506:152,070,145T/A——
rs609451086:152,080,832C/Tintron variant—
rs25040636:152,090,707A/Gintron variant—
rs753390256:152,107,155G/C——
rs5436506:152,110,943T/C——
rs28817666:152,119,119T/C——
rs94791186:152,119,124T/Cintron variant—
rs119642816:152,121,442C/Tintron variant—
rs5237366:152,123,895G/Aintron variant—
rs69031806:152,125,231G/A——
rs4881336:152,125,444T/Cintron variant—
rs20714546:152,126,824T/A——
rs8672396:152,128,631C/G—benign
rs8672406:152,128,642A/G—benign
rs93407726:152,128,878C/T—likely benign
rs1399609136:152,129,063C/T—conflicting classifications of pathogenicity
rs21281552266:152,129,065C/T—likely benign
rs17781455416:152,129,076C/T—uncertain significance
rs20776476:152,129,077T/Csynonymous variantbenign
rs7817725116:152,129,162C/T—likely benign
rs794150926:152,129,221C/T—benign
rs93407736:152,129,276G/A—benign
rs7464326:152,129,308G/Csynonymous variantbenign
rs17781784596:152,129,310C/T—uncertain significance
rs7465210506:152,129,316G/A—uncertain significance
rs14278143496:152,129,323C/T—likely benign
rs13569238426:152,129,337T/C—uncertain significance
rs7735002946:152,129,343C/A—uncertain significance
rs1814680716:152,129,362G/A—likely benign
rs2000753296:152,129,399T/C—likely benign
rs2011452046:152,129,453C/T—likely benign
rs1857170426:152,129,456A/G—benign
rs69144386:152,129,588C/T—benign
rs94791196:152,129,746G/T—benign
rs737808656:152,129,769C/G—likely benign
rs77667626:152,132,609G/Adownstream gene variant—
rs37786096:152,133,187C/Tdownstream gene variant—
rs38532486:152,139,886T/Cupstream gene variant—
rs38445086:152,140,042A/Gupstream gene variant—
rs1909300996:152,140,576A/Gintron variant—
rs94791226:152,140,940G/Aintron variant—
rs94791266:152,146,580T/Cintron variant—
rs77531536:152,148,098G/Aintron variant—
rs126650446:152,149,872C/Tintron variant—
rs737808736:152,150,924G/Aintron variant—
rs111558146:152,151,184A/Gintron variant—
rs1117622766:152,151,929T/C——
rs8274226:152,156,728G/Aintron variant—
rs762355496:152,156,937T/A——
rs8274216:152,157,122G/Aintron variant—
rs69027716:152,157,881C/Tintron variant—
rs795759456:152,158,847A/Gintron variant—
rs755592456:152,160,286A/Gintron variant—
rs81791766:152,163,334C/A——
rs22346936:152,163,335T/Cintron variantrisk factor
rs93407996:152,163,381A/Gintron variant—
rs339792436:152,163,532G/T—likely benign
rs1395487616:152,163,733C/G—conflicting classifications of pathogenicity
rs7582038946:152,163,735A/G—likely benign
rs1048939566:152,163,748C/Tstop gainedpathogenic
rs1493089606:152,163,757G/T—conflicting classifications of pathogenicity
rs21282345956:152,163,851A/G—uncertain significance
rs93408046:152,163,985C/T—likely benign
rs93408056:152,164,026A/G—likely benign
rs119680256:152,168,974T/Gintron variant—
rs25040736:152,171,237A/T——
rs15143486:152,182,315T/Gintron variant—
rs17091846:152,182,917T/A——
rs16438216:152,183,551G/Aintron variant—
rs24312606:152,192,331G/Cintron variant—
rs17091836:152,193,996C/Tintron variant—
rs10331826:152,195,034G/Aintron variant—
rs111558196:152,199,359T/Cintron variant—
rs93223356:152,200,129T/Cintron variant—
rs93223366:152,200,430C/Tintron variant—
rs65571696:152,201,464T/C—benign
rs93408446:152,201,624G/A—likely benign
rs2003036166:152,201,866C/T—likely benign
rs93408466:152,201,991G/A—likely benign
rs37573236:152,202,007C/T—benign

Showing 100 of 214 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.