DCC

DCC netrin 1 receptor

Summary

This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]

Known Variants282 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2144215711	18:49,867,159	T/C	—	likely pathogenic
rs117282798	18:49,867,165	A/G	—	likely benign
rs765345419	18:49,867,206	C/G	—	uncertain significance
rs9951523	18:49,867,224	T/C	missense variant	benign
rs112558388	18:49,867,255	G/A	—	benign
rs17669415	18:49,884,997	C/A	—	—
rs4438400	18:49,994,075	A/T	intron variant	—
rs6508144	18:50,026,142	C/G	intron variant	—
rs17681615	18:50,124,619	G/A	intron variant	—
rs1144097	18:50,126,692	T/G	—	—
rs34481890	18:50,164,886	A/G	intron variant	—
rs4940203	18:50,192,396	C/A	—	—
rs1460196	18:50,215,412	C/T	intron variant	—
rs17468382	18:50,261,011	T/C	intron variant	—
rs6508152	18:50,262,792	G/T	intron variant	—
rs376690246	18:50,278,452	G/A	—	likely benign
rs2145132802	18:50,278,495	G/C	—	uncertain significance
rs1469635869	18:50,278,557	G/C	—	uncertain significance
rs1033102782	18:50,278,582	G/A	—	uncertain significance
rs2037006619	18:50,278,595	G/C	—	uncertain significance
rs73457796	18:50,278,635	C/T	—	benign
rs13381333	18:50,278,686	G/A	—	benign
rs2037008530	18:50,278,703	C/T	—	uncertain significance
rs797044551	18:50,278,709	C/A	stop gained	not provided
rs755204572	18:50,278,716	T/A	—	likely benign
rs768048	18:50,285,398	C/T	intron variant	—
rs78939674	18:50,331,742	G/T	—	—
rs149735550	18:50,393,103	G/T	intron variant	—
rs1943098	18:50,404,377	G/A	—	—
rs2039877158	18:50,432,440	G/A	—	uncertain significance
rs765050052	18:50,432,444	C/A	—	likely benign
rs121912967	18:50,432,504	T/C	missense variant	pathogenic
rs201156075	18:50,432,527	A/G	—	uncertain significance
rs138724679	18:50,432,528	A/G	—	not provided
rs1429137702	18:50,432,533	C/G	—	uncertain significance
rs1436906451	18:50,432,550	C/T	—	likely benign
rs2511454882	18:50,432,582	C/T	—	uncertain significance
rs2229080	18:50,432,602	C/G	missense variant	benign
rs2511454945	18:50,432,618	A/T	—	likely pathogenic
rs2145447728	18:50,432,629	T/G	—	uncertain significance
rs759439297	18:50,432,633	G/C	—	uncertain significance
rs1180126622	18:50,432,644	C/T	—	pathogenic
rs142720578	18:50,432,655	C/A	—	benign
rs12607356	18:50,444,281	G/A	intron variant	—
rs1177650827	18:50,450,060	G/T	—	uncertain significance
rs146026074	18:50,450,085	C/T	—	likely benign
rs201234438	18:50,450,088	C/A	—	uncertain significance
rs755869531	18:50,450,122	A/G	—	uncertain significance
rs2040159710	18:50,450,148	G/A	—	uncertain significance
rs764544614	18:50,450,162	T/C	—	likely benign
rs1230228712	18:50,450,172	G/A	—	uncertain significance
rs754914260	18:50,450,202	C/T	stop gained	pathogenic
rs1428393731	18:50,450,219	C/G	—	uncertain significance
rs2276204	18:50,450,240	T/G	—	benign
rs2298656	18:50,451,434	C/T	intron variant	—
rs1458677597	18:50,451,606	C/G	—	uncertain significance
rs758939946	18:50,451,653	G/T	—	uncertain significance
rs1057519053	18:50,451,680	—	—	pathogenic
rs145827180	18:50,451,699	A/C	—	benign
rs78324365	18:50,458,734	G/A	upstream gene variant	—
rs72928185	18:50,507,208	A/G	intron variant	—
rs76398773	18:50,516,517	C/T	intron variant	—
rs62097899	18:50,517,509	C/T	intron variant	—
rs7504990	18:50,517,776	T/A	—	—
rs714	18:50,519,274	A/G	intron variant	—
rs4078288	18:50,547,251	G/A	intron variant	—
rs8097318	18:50,549,809	T/A	—	—
rs6417120	18:50,555,225	C/A	intron variant	—
rs7506451	18:50,570,431	T/A	intron variant	—
rs6508190	18:50,575,723	A/T	—	—
rs2042521952	18:50,589,672	C/T	—	uncertain significance
rs1300447517	18:50,589,683	T/C	—	uncertain significance
rs2144080757	18:50,589,743	T/C	—	uncertain significance
rs1599086646	18:50,589,749	G/A	—	uncertain significance
rs141716650	18:50,589,751	C/T	—	likely benign
rs2042523515	18:50,589,770	A/G	—	uncertain significance
rs781473932	18:50,589,772	T/G	—	likely benign
rs2144080946	18:50,589,773	G/A	—	uncertain significance
rs925711337	18:50,589,806	C/T	—	uncertain significance
rs797044553	18:50,589,830	G/A	—	pathogenic
rs111544101	18:50,592,418	A/T	—	benign
rs138621701	18:50,592,425	A/C	—	likely benign
rs2511644683	18:50,592,429	T/A	—	pathogenic
rs748884864	18:50,592,431	C/G	—	uncertain significance
rs140711456	18:50,592,432	G/A	—	conflicting classifications of pathogenicity
rs2511644815	18:50,592,509	A/G	—	uncertain significance
rs2511644851	18:50,592,522	T/G	—	uncertain significance
rs144623089	18:50,592,531	A/G	—	conflicting classifications of pathogenicity
rs71368910	18:50,613,671	C/A	—	—
rs11663393	18:50,614,732	G/A	intron variant	—
rs4462678	18:50,622,395	A/G	intron variant	—
rs11659803	18:50,635,119	G/A	intron variant	—
rs4638654	18:50,640,310	A/T	—	—
rs9944880	18:50,652,366	G/A	intron variant	—
rs769562862	18:50,683,732	C/G	—	uncertain significance
rs369760834	18:50,683,738	C/T	—	uncertain significance
rs2144397254	18:50,683,765	A/G	—	uncertain significance
rs777267562	18:50,683,781	G/A	—	uncertain significance
rs145985306	18:50,683,828	C/T	—	likely benign
rs199848449	18:50,683,844	A/C	—	benign

Showing 100 of 282 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.