DSC3

desmocollin 3

Summary

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Known Variants103 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9949290	18:28,573,997	T/C	—	benign
rs755355323	18:28,574,446	T/G	—	uncertain significance
rs2510892399	18:28,574,452	C/G	—	uncertain significance
rs8089682	18:28,574,472	G/A	—	benign
rs1472222	18:28,574,557	G/T	—	benign
rs1789051	18:28,576,533	A/C	—	benign
rs139991809	18:28,576,756	C/T	—	uncertain significance
rs142851621	18:28,576,762	C/T	—	conflicting classifications of pathogenicity
rs2228474	18:28,576,793	C/T	—	benign
rs745421266	18:28,576,848	A/C	—	uncertain significance
rs138126171	18:28,576,872	C/A	—	uncertain significance
rs2510894240	18:28,577,015	C/A	—	likely pathogenic
rs145045316	18:28,577,016	T/C	—	likely pathogenic
rs1313577	18:28,577,279	C/G	—	benign
rs35877601	18:28,577,315	C/A	—	benign
rs1313579	18:28,581,442	T/C	—	benign
rs750251872	18:28,581,591	T/A	—	uncertain significance
rs755736392	18:28,581,592	C/T	—	uncertain significance
rs114935867	18:28,581,601	G/A	—	likely benign
rs2144681220	18:28,581,639	A/C	—	pathogenic
rs761772439	18:28,581,652	A/G	—	uncertain significance
rs748492076	18:28,581,654	C/T	—	uncertain significance
rs185197053	18:28,581,655	G/A	—	uncertain significance
rs137852782	18:28,581,690	A/C	stop gained	pathogenic
rs1313581	18:28,583,870	T/C	—	benign
rs1908138	18:28,583,938	T/G	—	benign
rs1313582	18:28,583,981	T/C	—	benign
rs115929701	18:28,584,027	C/A	—	benign
rs751060254	18:28,584,279	T/C	—	likely benign
rs765489929	18:28,584,321	G/A	—	uncertain significance
rs1602895	18:28,584,556	G/T	—	benign
rs8087664	18:28,586,546	A/G	—	benign
rs1789068	18:28,586,620	T/C	—	benign
rs1984865406	18:28,586,911	G/A	—	uncertain significance
rs189467273	18:28,586,935	T/C	—	uncertain significance
rs1410520167	18:28,586,936	A/C	—	uncertain significance
rs772568578	18:28,586,950	T/C	—	uncertain significance
rs1313586	18:28,586,964	A/G	—	benign
rs1230194874	18:28,587,091	C/A	—	uncertain significance
rs2047083	18:28,587,180	T/C	—	benign
rs12607476	18:28,587,277	C/G	—	benign
rs1286794204	18:28,588,011	T/C	—	uncertain significance
rs749766506	18:28,588,018	C/G	—	uncertain significance
rs140923080	18:28,588,037	C/T	—	likely benign
rs1984917795	18:28,588,050	A/T	—	uncertain significance
rs2097307065	18:28,588,060	T/C	—	uncertain significance
rs763900204	18:28,588,098	C/A	—	uncertain significance
rs138874577	18:28,588,244	T/C	—	conflicting classifications of pathogenicity
rs138254140	18:28,588,282	G/A	—	likely benign
rs149649866	18:28,588,319	C/T	—	uncertain significance
rs114245564	18:28,588,349	G/A	—	uncertain significance
rs1234539210	18:28,588,368	T/C	—	uncertain significance
rs772973730	18:28,588,376	A/G	—	uncertain significance
rs373258373	18:28,588,420	T/G	—	uncertain significance
rs148206392	18:28,588,433	G/A	—	likely benign
rs527584079	18:28,588,461	T/C	—	uncertain significance
rs1313587	18:28,588,537	C/T	—	benign
rs1313588	18:28,588,736	C/T	—	benign
rs76937972	18:28,597,931	T/C	—	benign
rs771238740	18:28,598,177	G/A	—	likely pathogenic
rs376270984	18:28,598,182	A/G	—	uncertain significance
rs2510908700	18:28,598,189	C/T	—	uncertain significance
rs145101142	18:28,598,737	T/C	—	likely benign
rs777231339	18:28,598,740	C/T	—	uncertain significance
rs1898492	18:28,599,078	C/T	—	benign
rs77473534	18:28,602,184	G/A	—	benign
rs11874516	18:28,602,284	A/G	—	benign
rs115383401	18:28,602,337	C/T	—	benign
rs149148363	18:28,602,409	G/A	—	uncertain significance
rs747112220	18:28,602,411	G/A	—	uncertain significance
rs74539535	18:28,602,419	T/C	—	benign
rs758677438	18:28,602,462	G/A	—	uncertain significance
rs553869744	18:28,602,468	C/A	—	uncertain significance
rs1313595	18:28,602,768	A/C	—	benign
rs1595357	18:28,604,104	A/G	—	benign
rs367787927	18:28,604,401	G/A	—	uncertain significance
rs166724	18:28,605,492	T/A	—	benign
rs202439	18:28,605,715	A/T	—	benign
rs276921	18:28,605,761	G/A	—	benign
rs747444392	18:28,605,781	G/C	—	uncertain significance
rs35296997	18:28,605,818	T/G	—	benign
rs1313594	18:28,606,110	T/C	—	benign
rs276942	18:28,609,204	T/C	—	benign
rs276941	18:28,609,220	C/T	—	benign
rs747471270	18:28,609,476	T/C	—	uncertain significance
rs2510917523	18:28,609,531	T/G	—	uncertain significance
rs376075769	18:28,609,556	C/A	—	uncertain significance
rs762621394	18:28,609,576	T/C	—	uncertain significance
rs276940	18:28,609,770	C/T	—	benign
rs2850324	18:28,610,877	C/A	—	benign
rs276939	18:28,610,887	G/A	—	benign
rs276938	18:28,610,988	C/T	—	benign
rs779212383	18:28,611,004	A/G	—	likely benign
rs571722361	18:28,611,005	T/C	—	uncertain significance
rs276937	18:28,611,061	A/T	—	benign
rs276936	18:28,611,139	A/C	—	benign
rs764381866	18:28,612,206	T/C	—	uncertain significance
rs2852003	18:28,612,229	G/T	—	benign
rs114988341	18:28,612,233	G/T	—	likely benign
rs2852004	18:28,612,520	A/G	—	benign

Showing 100 of 103 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.