NTRK2

neurotrophic receptor tyrosine kinase 2

Summary

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants562 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1212171	9:87,282,527	C/T	regulatory region variant	—
rs45554739	9:87,285,237	G/A	—	benign
rs77562929	9:87,285,367	G/T	regulatory region variant	—
rs1187325	9:87,285,595	C/G	—	benign
rs1211748919	9:87,285,654	G/C	—	likely benign
rs1181805012	9:87,285,668	C/G	—	uncertain significance
rs199851011	9:87,285,669	G/T	—	likely benign
rs2131265532	9:87,285,681	G/A	—	likely benign
rs1373336521	9:87,285,688	G/A	—	conflicting classifications of pathogenicity
rs767314128	9:87,285,690	A/G	—	likely benign
rs1359560976	9:87,285,691	C/G	—	uncertain significance
rs1432834509	9:87,285,692	C/A	—	uncertain significance
rs78936193	9:87,285,694	G/T	—	conflicting classifications of pathogenicity
rs202111140	9:87,285,702	G/A	—	likely benign
rs2058651148	9:87,285,703	C/T	—	uncertain significance
rs756957794	9:87,285,707	T/A	—	uncertain significance
rs200698390	9:87,285,719	G/A	—	uncertain significance
rs772667595	9:87,285,728	T/C	—	uncertain significance
rs78480824	9:87,285,730	G/A	—	uncertain significance
rs776677354	9:87,285,747	C/G	—	likely benign
rs2058654001	9:87,285,749	C/T	—	uncertain significance
rs370304899	9:87,285,754	G/A	—	uncertain significance
rs143073407	9:87,285,763	A/G	—	uncertain significance
rs759206123	9:87,285,764	C/G	—	uncertain significance
rs2131267111	9:87,285,766	T/C	—	uncertain significance
rs2058655147	9:87,285,771	C/A	—	uncertain significance
rs147067960	9:87,285,778	A/C	—	uncertain significance
rs752620023	9:87,285,783	C/T	—	likely benign
rs1413475988	9:87,285,798	C/T	—	likely benign
rs1211901247	9:87,285,799	A/C	—	uncertain significance
rs376605075	9:87,285,801	C/T	—	likely benign
rs1330378026	9:87,285,807	T/C	—	likely benign
rs2058658126	9:87,285,811	C/T	—	uncertain significance
rs200996010	9:87,285,817	A/G	—	uncertain significance
rs1362739690	9:87,285,819	C/T	—	likely benign
rs778391314	9:87,285,820	G/A	—	uncertain significance
rs750066853	9:87,285,822	G/A	—	likely benign
rs2490686683	9:87,285,831	G/A	—	likely benign
rs758729728	9:87,285,833	G/T	—	uncertain significance
rs138465789	9:87,285,835	T/C	—	likely benign
rs747571706	9:87,285,836	T/A	—	pathogenic
rs769089926	9:87,285,842	C/T	—	uncertain significance
rs1237888351	9:87,285,843	T/C	—	likely benign
rs915858967	9:87,285,847	A/C	—	uncertain significance
rs948040979	9:87,285,849	T/C	—	likely benign
rs781249905	9:87,285,854	A/C	—	uncertain significance
rs748182988	9:87,285,865	A/T	—	uncertain significance
rs200474896	9:87,285,870	C/G	—	likely benign
rs1408094711	9:87,285,871	G/A	—	uncertain significance
rs1169880026	9:87,285,874	A/G	—	conflicting classifications of pathogenicity
rs763206550	9:87,285,878	G/A	—	uncertain significance
rs1587819865	9:87,285,883	C/G	—	likely benign
rs201579346	9:87,285,887	G/C	—	likely benign
rs1187326	9:87,285,915	C/T	—	benign
rs1211166	9:87,285,992	G/T	—	benign
rs1439050	9:87,288,193	G/T	intron variant	—
rs1187352	9:87,293,457	T/A	—	—
rs1187336	9:87,316,868	T/A	—	benign
rs539463486	9:87,317,058	C/G	—	likely benign
rs1398295147	9:87,317,065	T/C	—	likely benign
rs2491511005	9:87,317,072	A/G	—	uncertain significance
rs2491511139	9:87,317,078	A/G	—	uncertain significance
rs752011080	9:87,317,080	C/T	—	likely benign
rs201490630	9:87,317,081	G/A	—	uncertain significance
rs1356108430	9:87,317,086	C/T	—	likely benign
rs751296654	9:87,317,098	A/G	—	likely benign
rs775430298	9:87,317,102	A/G	—	uncertain significance
rs143970219	9:87,317,110	C/G	—	uncertain significance
rs2060775028	9:87,317,119	T/C	—	likely benign
rs2060775661	9:87,317,132	G/T	—	uncertain significance
rs1449585956	9:87,317,151	G/C	—	uncertain significance
rs200828099	9:87,317,159	A/G	—	likely benign
rs79043758	9:87,317,248	T/C	—	likely benign
rs746067158	9:87,317,259	A/T	—	likely benign
rs1052977316	9:87,317,267	A/G	—	uncertain significance
rs2491519880	9:87,317,270	G/T	—	uncertain significance
rs2131695386	9:87,317,277	C/A	—	likely pathogenic
rs1316923731	9:87,317,281	A/G	—	likely benign
rs545685998	9:87,317,293	G/C	—	likely benign
rs1445492288	9:87,317,298	A/T	—	uncertain significance
rs1303772589	9:87,317,303	G/A	—	uncertain significance
rs201225877	9:87,317,305	A/G	—	likely benign
rs2491521511	9:87,317,312	A/G	—	uncertain significance
rs2131695860	9:87,317,319	G/T	—	uncertain significance
rs200467220	9:87,317,333	A/G	—	uncertain significance
rs2131696095	9:87,317,335	G/C	—	uncertain significance
rs2491522654	9:87,317,342	G/C	—	likely benign
rs2491522720	9:87,317,343	A/G	—	likely benign
rs1178252143	9:87,317,346	T/C	—	likely benign
rs75505869	9:87,322,294	C/T	intron variant	—
rs1778929	9:87,322,540	C/T	—	benign
rs757409113	9:87,322,751	C/T	—	likely benign
rs746147656	9:87,322,759	C/T	—	conflicting classifications of pathogenicity
rs758634866	9:87,322,763	T/A	—	uncertain significance
rs1229434307	9:87,322,769	C/T	—	conflicting classifications of pathogenicity
rs781137734	9:87,322,770	G/A	—	conflicting classifications of pathogenicity
rs2491671323	9:87,322,774	C/T	—	likely benign
rs1317048518	9:87,322,781	A/C	—	uncertain significance
rs201256653	9:87,322,782	C/A	—	uncertain significance
rs769637053	9:87,322,783	G/A	—	likely benign

Showing 100 of 562 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.