NTRK1

neurotrophic receptor tyrosine kinase 1

Summary

This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]

Known Variants1,071 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs926103	1:156,784,982	T/A	missense variant	—
rs2150906	1:156,785,356	C/T	—	benign
rs200646544	1:156,785,613	A/G	—	likely benign
rs139790457	1:156,785,733	T/C	—	likely benign
rs7546838	1:156,785,771	A/G	—	benign
rs1800600	1:156,785,779	A/G	—	benign
rs2148907	1:156,797,302	C/A	intron variant	—
rs61813767	1:156,806,487	G/C	—	—
rs115937309	1:156,808,815	C/T	regulatory region variant	—
rs146201749	1:156,810,798	A/G	—	uncertain significance
rs79020702	1:156,811,806	C/G	—	likely benign
rs139555558	1:156,811,887	C/A	—	uncertain significance
rs1322273300	1:156,811,895	C/T	—	uncertain significance
rs145596747	1:156,811,896	C/A	—	uncertain significance
rs1206609592	1:156,811,935	C/G	—	uncertain significance
rs779943666	1:156,811,982	C/A	—	uncertain significance
rs13376034	1:156,812,145	G/C	—	likely benign
rs56252149	1:156,814,027	A/G	—	benign
rs41469353	1:156,830,486	C/T	—	benign
rs1007210	1:156,830,535	G/T	—	likely benign
rs1057522593	1:156,830,683	C/T	—	likely benign
rs570123832	1:156,830,688	A/G	—	likely benign
rs753655855	1:156,830,699	C/A	—	likely benign
rs1655612629	1:156,830,727	A/C	—	pathogenic
rs2102878838	1:156,830,728	T/A	—	likely pathogenic
rs2102878843	1:156,830,729	G/A	—	likely pathogenic
rs2102878845	1:156,830,732	G/A	—	likely benign
rs1655612729	1:156,830,733	C/G	—	uncertain significance
rs556840308	1:156,830,736	G/A	—	conflicting classifications of pathogenicity
rs757229319	1:156,830,738	C/T	—	likely benign
rs1382469625	1:156,830,739	G/A	—	uncertain significance
rs201472270	1:156,830,742	C/T	—	conflicting classifications of pathogenicity
rs894958112	1:156,830,748	G/A	—	uncertain significance
rs2525557772	1:156,830,750	G/T	—	likely benign
rs994643260	1:156,830,758	G/C	—	uncertain significance
rs2102878965	1:156,830,759	C/G	—	likely benign
rs2102879002	1:156,830,765	C/T	—	likely benign
rs988922767	1:156,830,777	G/C	—	likely benign
rs1007211	1:156,830,779	G/A	—	likely benign
rs1412756262	1:156,830,780	G/A	—	likely benign
rs944894163	1:156,830,783	G/T	—	likely benign
rs1209117147	1:156,830,784	G/A	—	uncertain significance
rs781613716	1:156,830,785	G/A	—	uncertain significance
rs2102879072	1:156,830,786	C/A	—	likely benign
rs1402027172	1:156,830,787	A/G	—	uncertain significance
rs1269566553	1:156,830,789	C/G	—	uncertain significance
rs748402400	1:156,830,791	T/A	—	likely benign
rs1353289019	1:156,830,792	G/C	—	likely benign
rs886337406	1:156,830,796	G/T	—	uncertain significance
rs2525558110	1:156,830,809	T/G	—	uncertain significance
rs1350547406	1:156,830,814	T/C	—	uncertain significance
rs2102879132	1:156,830,815	C/A	—	uncertain significance
rs1005245197	1:156,830,816	T/G	—	likely benign
rs756222046	1:156,830,818	C/T	—	uncertain significance
rs1343765351	1:156,830,821	G/T	—	uncertain significance
rs1230509048	1:156,830,822	C/T	—	likely benign
rs777913530	1:156,830,823	G/T	—	uncertain significance
rs554115998	1:156,830,825	C/T	—	likely benign
rs2102879190	1:156,830,828	A/G	—	likely benign
rs1204319733	1:156,830,829	C/T	—	conflicting classifications of pathogenicity
rs2525558240	1:156,830,831	C/A	—	likely benign
rs1252701624	1:156,830,834	C/T	—	likely benign
rs771535766	1:156,830,837	C/T	—	likely benign
rs1377294547	1:156,830,842	C/A	—	uncertain significance
rs746293720	1:156,830,843	C/T	—	likely benign
rs1417777495	1:156,830,849	C/T	—	likely benign
rs1655622371	1:156,830,856	G/A	—	uncertain significance
rs1655622492	1:156,830,857	G/A	—	uncertain significance
rs1370714107	1:156,830,858	C/T	—	likely benign
rs572625293	1:156,830,864	G/C	—	likely benign
rs1553260399	1:156,830,866	G/C	—	uncertain significance
rs768100152	1:156,830,871	C/G	—	likely benign
rs1655623769	1:156,830,874	T/C	—	uncertain significance
rs376870955	1:156,830,878	C/T	—	uncertain significance
rs1227657378	1:156,830,881	G/A	—	uncertain significance
rs200815412	1:156,830,883	G/C	—	conflicting classifications of pathogenicity
rs1266709497	1:156,830,890	C/A	—	uncertain significance
rs2525558708	1:156,830,891	C/T	—	likely benign
rs1368793761	1:156,830,897	T/G	—	uncertain significance
rs2102879484	1:156,830,898	A/C	—	uncertain significance
rs564537453	1:156,830,904	C/A	—	likely benign
rs1571681483	1:156,830,909	C/T	—	likely benign
rs766307207	1:156,830,911	T/C	—	uncertain significance
rs2102879546	1:156,830,912	G/A	—	likely benign
rs752899898	1:156,830,914	C/G	—	uncertain significance
rs777710084	1:156,830,915	C/G	—	likely benign
rs753992251	1:156,830,916	G/A	—	uncertain significance
rs1655628449	1:156,830,919	G/A	—	uncertain significance
rs2525558931	1:156,830,921	A/G	—	likely benign
rs1655628590	1:156,830,923	A/G	—	uncertain significance
rs757683490	1:156,830,927	C/T	—	likely benign
rs779430325	1:156,830,928	C/G	—	uncertain significance
rs398122810	1:156,830,933	—	—	pathogenic
rs2525559090	1:156,830,936	G/A	—	likely benign
rs1655629659	1:156,830,937	C/T	—	uncertain significance
rs2525559133	1:156,830,940	T/C	—	likely pathogenic
rs1655629889	1:156,830,943	G/A	—	uncertain significance
rs183517027	1:156,830,948	C/T	—	conflicting classifications of pathogenicity
rs1297997575	1:156,830,949	G/A	—	likely benign
rs1367303841	1:156,830,950	G/A	—	likely benign

Showing 100 of 1,071 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.