ERBB4

erb-b2 receptor tyrosine kinase 4

Summary

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

Known Variants507 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1595066	2:212,241,725	C/T	3 prime UTR variant	—
rs11895168	2:212,242,192	A/T	—	—
rs1595065	2:212,242,641	G/C	—	—
rs1595064	2:212,242,745	G/C	3 prime UTR variant	—
rs16845990	2:212,243,011	T/G	—	—
rs1972820	2:212,243,422	G/A	3 prime UTR variant	—
rs13003941	2:212,243,703	G/T	3 prime UTR variant	—
rs10932374	2:212,244,403	G/T	—	—
rs12471583	2:212,244,718	T/C	3 prime UTR variant	—
rs1836724	2:212,244,952	G/A	—	benign
rs3748960	2:212,247,834	C/T	3 prime UTR variant	—
rs2062616835	2:212,248,341	T/C	—	uncertain significance
rs375899745	2:212,248,358	G/A	—	likely benign
rs758510094	2:212,248,376	C/T	—	likely benign
rs751834116	2:212,248,377	G/A	—	uncertain significance
rs755829219	2:212,248,379	C/A	—	likely benign
rs545302445	2:212,248,389	C/T	—	uncertain significance
rs749222561	2:212,248,406	C/A	—	uncertain significance
rs367568427	2:212,248,408	C/T	—	uncertain significance
rs2125308701	2:212,248,429	C/G	—	uncertain significance
rs141902440	2:212,248,443	C/T	—	uncertain significance
rs397514263	2:212,248,444	G/A	missense variant	pathogenic
rs2125308908	2:212,248,446	A/C	—	uncertain significance
rs776077461	2:212,248,448	C/T	—	likely benign
rs371332509	2:212,248,453	C/T	—	likely pathogenic
rs2125309347	2:212,248,488	T/C	—	uncertain significance
rs2125309418	2:212,248,493	G/A	—	likely benign
rs2062623560	2:212,248,502	G/A	—	likely benign
rs150628313	2:212,248,521	G/A	—	likely benign
rs2062624654	2:212,248,532	G/A	—	likely benign
rs575123779	2:212,248,535	G/A	—	likely benign
rs746630008	2:212,248,541	G/A	—	likely benign
rs144821497	2:212,248,559	C/T	—	likely benign
rs763559555	2:212,248,560	G/A	—	uncertain significance
rs1210422013	2:212,248,566	T/C	—	uncertain significance
rs750691942	2:212,248,611	G/C	—	uncertain significance
rs2062627514	2:212,248,623	G/A	—	uncertain significance
rs752552949	2:212,248,625	G/T	—	uncertain significance
rs140175824	2:212,248,628	G/A	—	likely benign
rs986486076	2:212,248,632	A/G	—	uncertain significance
rs190892132	2:212,248,637	G/A	—	likely benign
rs1185985735	2:212,248,654	C/T	—	uncertain significance
rs1420098634	2:212,248,660	C/A	—	likely benign
rs780519461	2:212,248,672	C/T	—	uncertain significance
rs144904702	2:212,248,673	G/A	—	benign
rs201275165	2:212,248,689	T/C	—	conflicting classifications of pathogenicity
rs1305796187	2:212,248,694	T/A	—	likely benign
rs2062629569	2:212,248,697	A/G	—	likely benign
rs774730380	2:212,248,698	T/C	—	uncertain significance
rs1416461622	2:212,248,702	G/A	—	uncertain significance
rs772305139	2:212,248,709	G/A	—	likely benign
rs773536989	2:212,248,720	A/G	—	likely benign
rs2469173499	2:212,248,740	T/A	—	uncertain significance
rs1160303514	2:212,248,742	T/G	—	uncertain significance
rs2469173634	2:212,248,748	A/G	—	likely benign
rs202042335	2:212,248,773	G/C	—	uncertain significance
rs768312275	2:212,248,779	A/G	—	uncertain significance
rs75016409	2:212,251,329	G/A	—	benign
rs1044752647	2:212,251,595	C/T	—	uncertain significance
rs770938636	2:212,251,613	C/A	—	uncertain significance
rs774192228	2:212,251,626	G/T	—	conflicting classifications of pathogenicity
rs377737065	2:212,251,643	C/T	—	uncertain significance
rs753505906	2:212,251,646	T/C	—	uncertain significance
rs139785964	2:212,251,659	C/T	—	uncertain significance
rs757329661	2:212,251,684	G/C	—	likely benign
rs781181705	2:212,251,685	G/A	—	uncertain significance
rs1574386921	2:212,251,720	C/T	—	likely benign
rs2062698939	2:212,251,722	T/C	—	uncertain significance
rs770460785	2:212,251,724	C/T	—	uncertain significance
rs144311212	2:212,251,725	G/A	—	conflicting classifications of pathogenicity
rs2125319272	2:212,251,728	G/A	—	likely benign
rs1461973181	2:212,251,732	G/C	—	likely benign
rs2125319546	2:212,251,754	A/G	—	uncertain significance
rs1278487985	2:212,251,767	T/G	—	uncertain significance
rs182276587	2:212,251,802	C/T	—	uncertain significance
rs143251275	2:212,251,806	T/C	—	uncertain significance
rs2062701323	2:212,251,817	T/C	—	uncertain significance
rs1376362889	2:212,251,819	G/A	—	likely benign
rs2062701426	2:212,251,821	G/T	—	uncertain significance
rs3748962	2:212,251,864	T/C	synonymous variant	benign
rs1408253754	2:212,251,870	C/G	—	uncertain significance
rs200172669	2:212,251,873	G/T	—	uncertain significance
rs201471724	2:212,251,888	G/T	—	likely benign
rs62180137	2:212,252,167	T/C	—	benign
rs372352845	2:212,252,671	C/T	—	uncertain significance
rs373685875	2:212,252,677	A/G	—	uncertain significance
rs766441342	2:212,252,683	G/A	—	uncertain significance
rs2125322794	2:212,252,701	C/T	—	uncertain significance
rs1222680082	2:212,252,710	A/G	—	uncertain significance
rs755459959	2:212,252,716	C/T	—	uncertain significance
rs1219398134	2:212,252,720	A/C	—	uncertain significance
rs188179744	2:212,252,722	T/C	—	likely benign
rs934607	2:212,252,809	G/A	—	benign
rs10197831	2:212,252,903	T/C	—	benign
rs934606	2:212,252,955	C/T	—	benign
rs75477089	2:212,253,024	G/C	—	benign
rs116364052	2:212,261,785	G/C	intron variant	—
rs149521206	2:212,281,674	T/C	intron variant	—
rs2289086	2:212,285,103	C/T	—	benign
rs763295228	2:212,285,146	T/G	—	benign

Showing 100 of 507 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.