ERBB2

erb-b2 receptor tyrosine kinase 2

Summary

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

Known Variants613 total

rsidPosition (GRCh37)AllelesClassClinVar
rs251795617:37,843,859G/Aregulatory region variantbenign
rs105752010817:37,844,236——pathogenic
rs251795917:37,846,512A/Tupstream gene variant—
rs290476617:37,848,677A/Gupstream gene variant—
rs251795117:37,853,097C/Tupstream gene variant—
rs425259617:37,855,834C/Aupstream gene variantnot provided
rs205800554517:37,856,498C/G—uncertain significance
rs103958994617:37,856,501G/T—uncertain significance
rs116083548817:37,856,506C/G—likely benign
rs92121513917:37,856,530C/T—likely benign
rs129350548517:37,856,532C/T—uncertain significance
rs19317102617:37,856,534C/T—likely benign
rs56702272017:37,856,542C/T—likely benign
rs122750068817:37,856,545C/A—likely benign
rs214526984617:37,856,550C/T—uncertain significance
rs100489653617:37,856,553C/G—uncertain significance
rs89637624517:37,856,556G/A—uncertain significance
rs77374448017:37,856,560C/T—likely benign
rs103642567717:37,856,567G/A—uncertain significance
rs214527088817:37,856,573G/A—likely benign
rs11816920917:37,859,785C/Tregulatory region variant—
rs295215517:37,861,718T/A——
rs37309775917:37,863,231C/T—likely benign
rs89416611517:37,863,238G/T—likely benign
rs75592168317:37,863,243T/C—uncertain significance
rs102140356917:37,863,247C/T—likely benign
rs77991312017:37,863,248A/C—uncertain significance
rs37754278917:37,863,250C/T—likely benign
rs205848315817:37,863,259C/T—likely benign
rs99874085917:37,863,260A/T—uncertain significance
rs54688684517:37,863,262G/T—likely benign
rs425261017:37,863,268G/A—benign
rs14993780217:37,863,269C/T—uncertain significance
rs75993506517:37,863,274C/T—likely benign
rs214540583217:37,863,280C/A—likely benign
rs145924702117:37,863,281A/G—uncertain significance
rs77582675317:37,863,286C/T—likely benign
rs76319341417:37,863,287G/A—uncertain significance
rs205848633717:37,863,291C/T—uncertain significance
rs131141552917:37,863,300A/T—uncertain significance
rs58777826617:37,863,302A/G—not provided
rs14401991017:37,863,309G/A—benign
rs139010797417:37,863,321A/G—uncertain significance
rs14044122917:37,863,339A/G—uncertain significance
rs75474268617:37,863,361C/T—likely benign
rs214540978217:37,863,362C/A—uncertain significance
rs77857500817:37,863,368A/G—uncertain significance
rs123489986417:37,863,370C/G—likely benign
rs214541033817:37,863,371A/G—uncertain significance
rs75789997817:37,863,372A/G—uncertain significance
rs77734742717:37,863,375C/G—uncertain significance
rs144903637117:37,863,392C/T—uncertain significance
rs118147624217:37,863,397G/A—uncertain significance
rs119610330717:37,863,403C/T—likely benign
rs37127026917:37,863,404G/A—likely benign
rs52904283917:37,863,408G/C—likely benign
rs74957631617:37,864,563C/T—likely benign
rs89067354417:37,864,567C/T—likely benign
rs77441432417:37,864,569C/T—likely benign
rs214543700017:37,864,581A/G—uncertain significance
rs6173796817:37,864,584A/C—likely benign
rs37652432417:37,864,598G/A—uncertain significance
rs14778518817:37,864,606C/T—likely benign
rs205858713117:37,864,616C/A—uncertain significance
rs214543881317:37,864,619G/C—uncertain significance
rs75685085717:37,864,630C/A—likely benign
rs214543956017:37,864,636G/A—likely benign
rs74988638917:37,864,646C/T—uncertain significance
rs75672065917:37,864,647G/A—uncertain significance
rs155561429817:37,864,655C/T—uncertain significance
rs57647173317:37,864,660C/T—likely benign
rs134028702617:37,864,680A/G—uncertain significance
rs37281177217:37,864,688C/T—likely benign
rs127269534117:37,864,691G/A—uncertain significance
rs20010235317:37,864,693C/T—benign
rs37095959217:37,864,713C/T—uncertain significance
rs76287593717:37,864,714G/A—likely benign
rs128354666117:37,864,718A/T—uncertain significance
rs425261317:37,864,729C/G—benign
rs76156466717:37,864,730C/G—uncertain significance
rs37382462217:37,864,731C/G—uncertain significance
rs147559478617:37,864,744C/T—likely benign
rs75429516517:37,864,748C/T—uncertain significance
rs214544578917:37,864,750A/G—likely benign
rs18567081917:37,864,776G/A—likely benign
rs52777910317:37,864,781C/T—likely benign
rs156789861717:37,864,789T/C—uncertain significance
rs205860006717:37,864,791G/A—uncertain significance
rs36758539417:37,864,800G/A—likely benign
rs20006298317:37,864,803A/G—benign
rs214546899217:37,865,559C/T—uncertain significance
rs205865476017:37,865,561C/T—uncertain significance
rs15112241017:37,865,586G/C—uncertain significance
rs77804126617:37,865,588G/C—uncertain significance
rs75744621717:37,865,593G/C—uncertain significance
rs78113796117:37,865,600C/T—uncertain significance
rs74592147117:37,865,601G/A—uncertain significance
rs76850208117:37,865,605C/T—likely benign
rs122755913717:37,865,628C/T—uncertain significance
rs37081032217:37,865,629G/C—likely benign

Showing 100 of 613 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.