SH2B1

SH2B adaptor protein 1

Summary

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Known Variants212 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs80275162	16:28,863,517	T/G	—	—
rs192613545	16:28,863,901	T/G	intron variant	—
rs371918919	16:28,863,965	A/T	—	—
rs187320183	16:28,864,130	C/T	intron variant	—
rs56226746	16:28,864,449	G/T	—	—
rs56163509	16:28,864,471	A/T	—	—
rs62037363	16:28,865,042	T/C	intron variant	—
rs62037365	16:28,868,962	C/G	downstream gene variant	—
rs12446589	16:28,870,962	G/A	downstream gene variant	—
rs12448902	16:28,871,191	C/T	—	—
rs7201929	16:28,871,966	T/C	downstream gene variant	—
rs4788102	16:28,873,398	G/A	downstream gene variant	—
rs11864750	16:28,875,204	A/T	regulatory region variant	—
rs565131715	16:28,875,887	T/A	—	—
rs561051168	16:28,876,624	G/A	—	likely benign
rs1212406427	16:28,877,426	C/T	—	uncertain significance
rs1039184899	16:28,877,454	C/T	—	likely benign
rs773538002	16:28,877,457	G/A	—	likely benign
rs751616253	16:28,877,466	G/C	—	likely benign
rs755049475	16:28,877,469	G/A	—	likely benign
rs1355653845	16:28,877,475	A/C	—	likely benign
rs756529856	16:28,877,476	C/T	—	uncertain significance
rs778108707	16:28,877,478	C/T	—	likely benign
rs749598219	16:28,877,480	C/A	—	uncertain significance
rs945365382	16:28,877,481	G/C	—	likely benign
rs2544866925	16:28,877,484	C/A	—	likely benign
rs1212256189	16:28,877,487	T/G	—	likely benign
rs756872302	16:28,877,488	A/T	—	uncertain significance
rs933512684	16:28,877,494	C/T	—	uncertain significance
rs559282918	16:28,877,495	G/A	—	uncertain significance
rs377177338	16:28,877,514	C/T	—	likely benign
rs766544611	16:28,877,524	G/A	—	uncertain significance
rs528015738	16:28,877,526	G/T	—	likely benign
rs547678855	16:28,877,542	C/A	—	uncertain significance
rs1181457401	16:28,877,552	G/A	—	uncertain significance
rs779704156	16:28,877,561	T/A	—	uncertain significance
rs368808399	16:28,877,569	C/T	—	uncertain significance
rs747937817	16:28,877,582	C/T	—	uncertain significance
rs550314573	16:28,877,595	C/T	—	likely benign
rs375578823	16:28,877,615	G/A	—	uncertain significance
rs146716820	16:28,877,622	T/C	—	likely benign
rs933465237	16:28,877,631	C/T	—	likely benign
rs200897662	16:28,877,637	G/A	—	likely benign
rs539108157	16:28,877,648	C/T	—	uncertain significance
rs751149899	16:28,877,649	C/T	—	likely benign
rs375583410	16:28,877,659	C/T	—	uncertain significance
rs1447116732	16:28,877,674	C/G	—	uncertain significance
rs775649301	16:28,877,679	G/A	—	likely benign
rs149091795	16:28,877,684	C/A	—	conflicting classifications of pathogenicity
rs762374544	16:28,877,700	G/C	—	likely benign
rs2544868001	16:28,877,708	G/A	—	uncertain significance
rs144126859	16:28,877,711	C/T	—	conflicting classifications of pathogenicity
rs2152175854	16:28,877,731	C/G	—	uncertain significance
rs780754138	16:28,877,738	T/C	—	uncertain significance
rs374431932	16:28,877,768	C/T	—	uncertain significance
rs1404510321	16:28,877,777	G/A	—	uncertain significance
rs200118693	16:28,877,786	G/C	—	uncertain significance
rs143095244	16:28,877,790	A/G	—	likely benign
rs2152176118	16:28,877,803	G/A	—	uncertain significance
rs543147238	16:28,877,805	C/T	—	likely benign
rs151165842	16:28,877,831	C/T	—	uncertain significance
rs745581801	16:28,877,837	C/T	—	uncertain significance
rs781220450	16:28,877,844	C/T	—	likely benign
rs748301005	16:28,877,847	C/T	—	likely benign
rs141195883	16:28,877,864	A/G	—	uncertain significance
rs202032080	16:28,877,869	C/T	—	uncertain significance
rs186154640	16:28,877,878	C/T	—	likely benign
rs1198783948	16:28,877,882	G/A	—	uncertain significance
rs1427356472	16:28,877,893	C/T	—	uncertain significance
rs1460739551	16:28,877,903	G/A	—	uncertain significance
rs1037748087	16:28,877,915	G/A	—	uncertain significance
rs757189846	16:28,877,927	A/G	—	uncertain significance
rs147094247	16:28,877,939	C/A	missense variant	uncertain significance
rs751302305	16:28,877,978	C/T	—	uncertain significance
rs1962724602	16:28,877,983	G/T	—	uncertain significance
rs1485010153	16:28,878,002	G/T	—	uncertain significance
rs367969323	16:28,878,027	C/T	—	conflicting classifications of pathogenicity
rs372038271	16:28,878,028	G/A	—	uncertain significance
rs541383976	16:28,878,039	C/T	—	likely benign
rs138736485	16:28,878,069	G/A	—	likely benign
rs762803968	16:28,878,072	C/T	—	likely benign
rs773476319	16:28,878,094	C/T	—	uncertain significance
rs201621467	16:28,878,095	G/C	—	uncertain significance
rs144659309	16:28,878,120	G/A	—	likely benign
rs1265065081	16:28,878,127	G/T	—	uncertain significance
rs780881879	16:28,878,129	C/T	—	likely benign
rs769421511	16:28,878,130	G/T	—	uncertain significance
rs770809673	16:28,878,145	G/T	—	uncertain significance
rs1224831748	16:28,878,166	G/C	—	uncertain significance
rs199996405	16:28,878,202	C/A	—	benign
rs1240326581	16:28,878,206	A/T	—	uncertain significance
rs752049196	16:28,878,214	G/A	—	uncertain significance
rs1365826803	16:28,878,221	G/T	—	uncertain significance
rs561413284	16:28,878,223	C/T	—	uncertain significance
rs748454799	16:28,878,224	G/A	—	uncertain significance
rs770456497	16:28,878,238	G/T	—	uncertain significance
rs2152177412	16:28,878,250	T/C	—	uncertain significance
rs1475541480	16:28,878,263	G/A	—	uncertain significance
rs765409318	16:28,878,287	G/A	—	uncertain significance
rs940835451	16:28,878,292	C/G	—	uncertain significance

Showing 100 of 212 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.