STAMBP

STAM binding protein

Summary

Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants172 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7572565	2:74,055,534	T/A	upstream gene variant	—
rs74461860	2:74,057,696	C/T	—	likely benign
rs919629	2:74,057,995	T/A	—	uncertain significance
rs777038194	2:74,057,997	G/A	—	uncertain significance
rs767316172	2:74,058,012	C/T	—	uncertain significance
rs2466264635	2:74,058,015	C/T	—	uncertain significance
rs145371363	2:74,058,016	C/T	—	likely benign
rs375857232	2:74,058,017	G/A	—	uncertain significance
rs778405428	2:74,058,024	G/A	—	uncertain significance
rs1264087605	2:74,058,032	G/C	—	uncertain significance
rs1673830067	2:74,058,042	A/G	—	uncertain significance
rs2466265889	2:74,058,050	A/G	—	uncertain significance
rs1479389015	2:74,058,054	C/T	—	uncertain significance
rs777124033	2:74,058,055	G/A	—	likely benign
rs2466266227	2:74,058,066	A/G	—	uncertain significance
rs1673834256	2:74,058,070	A/C	—	uncertain significance
rs145850419	2:74,058,083	C/T	—	uncertain significance
rs143739249	2:74,058,095	C/T	missense variant	pathogenic
rs535383459	2:74,058,096	G/A	—	conflicting classifications of pathogenicity
rs397509387	2:74,058,108	A/G	missense variant	pathogenic
rs1009722002	2:74,058,154	A/G	—	likely benign
rs202201322	2:74,058,166	C/T	—	likely benign
rs146522134	2:74,058,169	C/G	—	likely benign
rs781694797	2:74,058,171	A/G	—	conflicting classifications of pathogenicity
rs1304265018	2:74,058,173	A/G	—	uncertain significance
rs139069654	2:74,058,180	A/T	—	uncertain significance
rs774472719	2:74,058,191	G/A	—	likely pathogenic
rs760540615	2:74,058,194	A/T	—	likely benign
rs776436232	2:74,058,198	A/G	—	likely benign
rs185033300	2:74,063,564	G/A	intron variant	—
rs746354315	2:74,071,935	C/G	—	likely benign
rs372148391	2:74,071,943	C/G	—	likely benign
rs776031046	2:74,071,948	T/C	—	uncertain significance
rs192721019	2:74,071,954	A/G	—	conflicting classifications of pathogenicity
rs150593655	2:74,071,966	A/G	missense variant	pathogenic
rs1174684647	2:74,071,968	C/T	—	likely pathogenic
rs2466542065	2:74,071,970	A/C	—	likely benign
rs759468412	2:74,071,979	A/C	—	uncertain significance
rs769638784	2:74,071,992	C/A	—	uncertain significance
rs1430174225	2:74,071,993	C/T	—	uncertain significance
rs397509389	2:74,072,020	G/T	splice region variant	pathogenic
rs376644118	2:74,072,033	T/C	—	likely benign
rs7599414	2:74,072,058	G/A	—	likely benign
rs75471207	2:74,072,066	G/A	—	likely benign
rs1231705881	2:74,072,284	T/C	—	likely benign
rs397514697	2:74,072,313	T/A	missense variant	pathogenic
rs1286867177	2:74,072,315	C/T	—	uncertain significance
rs1389979778	2:74,072,332	G/C	—	likely benign
rs2466550369	2:74,072,335	G/A	—	likely benign
rs373680226	2:74,072,351	C/T	—	pathogenic
rs139293928	2:74,072,362	A/C	—	uncertain significance
rs771783673	2:74,072,376	A/T	—	uncertain significance
rs777263621	2:74,072,396	A/G	—	likely benign
rs149581863	2:74,072,398	A/G	—	likely benign
rs372214723	2:74,072,401	A/G	—	likely benign
rs114167413	2:74,072,466	A/G	—	likely benign
rs1333336919	2:74,074,208	C/A	—	likely benign
rs147798075	2:74,074,501	T/C	—	likely benign
rs115370242	2:74,074,510	G/A	—	benign
rs1553381817	2:74,074,511	T/G	—	uncertain significance
rs1379431694	2:74,074,536	C/T	—	uncertain significance
rs199846438	2:74,074,538	C/T	—	uncertain significance
rs141275418	2:74,074,539	G/A	—	uncertain significance
rs751872971	2:74,074,544	A/G	—	conflicting classifications of pathogenicity
rs2466591614	2:74,074,547	G/A	—	uncertain significance
rs757404623	2:74,074,552	C/G	—	uncertain significance
rs1401253918	2:74,074,556	C/T	—	pathogenic
rs186098243	2:74,074,562	C/G	—	uncertain significance
rs778944371	2:74,074,581	G/A	—	uncertain significance
rs375837286	2:74,074,595	A/G	—	uncertain significance
rs116012954	2:74,074,603	G/T	—	likely benign
rs1012443924	2:74,074,608	T/G	—	uncertain significance
rs1314125150	2:74,074,613	C/G	—	uncertain significance
rs1488661358	2:74,074,625	C/T	—	uncertain significance
rs140651555	2:74,074,637	G/A	—	conflicting classifications of pathogenicity
rs774517823	2:74,074,646	C/T	—	uncertain significance
rs369143611	2:74,074,647	G/A	—	uncertain significance
rs2466594197	2:74,074,660	A/G	—	likely benign
rs397509388	2:74,074,670	C/T	stop gained	pathogenic
rs1044244423	2:74,074,695	G/A	—	uncertain significance
rs777630418	2:74,074,721	C/T	—	uncertain significance
rs145371787	2:74,074,722	C/T	—	uncertain significance
rs1676291143	2:74,074,735	C/T	—	likely benign
rs1553382055	2:74,074,787	C/T	—	pathogenic
rs2466596985	2:74,074,791	C/G	—	uncertain significance
rs772459605	2:74,074,796	G/A	—	uncertain significance
rs1377874716	2:74,074,804	C/T	—	likely benign
rs200378395	2:74,074,808	A/G	—	likely benign
rs1355731734	2:74,074,811	G/T	—	uncertain significance
rs2466597628	2:74,074,828	A/G	—	likely benign
rs2466597650	2:74,074,830	C/G	—	uncertain significance
rs749564426	2:74,074,840	C/G	—	uncertain significance
rs766580482	2:74,074,845	C/T	—	pathogenic
rs751496441	2:74,074,873	A/G	—	likely benign
rs750131253	2:74,074,889	A/G	—	likely benign
rs11904306	2:74,076,269	C/T	—	benign
rs1388424267	2:74,076,487	C/T	—	uncertain significance
rs754485280	2:74,076,510	C/T	—	uncertain significance
rs146601260	2:74,076,511	G/A	—	conflicting classifications of pathogenicity
rs1200687710	2:74,076,514	A/T	—	uncertain significance

Showing 100 of 172 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.