DSC2

desmocollin 2

Summary

This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Known Variants1,313 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1126214	18:28,639,548	T/C	upstream gene variant	—
rs548041881	18:28,645,952	T/A	—	uncertain significance
rs751949322	18:28,646,009	T/G	—	uncertain significance
rs532718510	18:28,646,054	A/G	—	uncertain significance
rs886053682	18:28,646,058	G/T	—	uncertain significance
rs1986611103	18:28,646,104	A/C	—	uncertain significance
rs375290800	18:28,646,197	C/A	—	uncertain significance
rs181853776	18:28,646,277	C/A	—	uncertain significance
rs1986617619	18:28,646,281	A/G	—	uncertain significance
rs185216732	18:28,646,323	C/T	—	uncertain significance
rs767804423	18:28,646,353	A/C	—	uncertain significance
rs188072930	18:28,646,377	T/C	—	likely benign
rs571420655	18:28,646,440	T/A	—	uncertain significance
rs180728052	18:28,646,506	C/G	—	likely benign
rs886053683	18:28,646,528	G/A	—	uncertain significance
rs886053684	18:28,646,537	T/C	—	uncertain significance
rs539091896	18:28,646,573	T/C	—	uncertain significance
rs886053685	18:28,646,580	G/A	—	uncertain significance
rs1986629320	18:28,646,625	C/T	—	uncertain significance
rs1029495207	18:28,646,635	A/T	—	uncertain significance
rs141273986	18:28,646,698	T/C	—	likely benign
rs28530723	18:28,646,744	C/T	—	uncertain significance
rs886053686	18:28,646,798	C/T	—	uncertain significance
rs749440073	18:28,646,823	T/C	—	uncertain significance
rs886053687	18:28,646,855	C/A	—	uncertain significance
rs1358624129	18:28,646,871	T/C	—	uncertain significance
rs186055396	18:28,646,877	C/T	—	uncertain significance
rs74749519	18:28,646,885	A/G	—	benign
rs191171295	18:28,646,964	G/A	—	uncertain significance
rs1986642855	18:28,646,978	A/G	—	uncertain significance
rs886053688	18:28,647,047	G/T	—	uncertain significance
rs1188292553	18:28,647,055	C/T	—	uncertain significance
rs746780312	18:28,647,117	C/T	—	uncertain significance
rs886053689	18:28,647,148	C/G	—	uncertain significance
rs1208729636	18:28,647,183	A/G	—	uncertain significance
rs1613246	18:28,647,197	C/A	—	uncertain significance
rs539965523	18:28,647,217	A/T	—	uncertain significance
rs940327323	18:28,647,228	A/C	—	uncertain significance
rs372988931	18:28,647,276	C/T	—	uncertain significance
rs1986657464	18:28,647,289	T/C	—	uncertain significance
rs886053691	18:28,647,341	C/A	—	uncertain significance
rs59914360	18:28,647,402	G/A	—	benign
rs373266930	18:28,647,447	T/C	—	uncertain significance
rs555348907	18:28,647,509	A/T	—	uncertain significance
rs769685892	18:28,647,559	G/A	—	uncertain significance
rs147458812	18:28,647,796	T/C	—	uncertain significance
rs886053692	18:28,647,815	G/C	—	uncertain significance
rs78190086	18:28,647,844	T/C	—	likely benign
rs139923163	18:28,647,848	C/T	—	benign
rs77431927	18:28,647,935	T/A	—	likely benign
rs1239137048	18:28,647,978	C/A	—	uncertain significance
rs2510936507	18:28,647,980	C/T	—	uncertain significance
rs1986683368	18:28,647,982	C/A	—	uncertain significance
rs2510936519	18:28,647,986	T/C	—	uncertain significance
rs754521188	18:28,647,992	T/A	—	conflicting classifications of pathogenicity
rs1986684188	18:28,647,993	G/T	—	uncertain significance
rs1018167792	18:28,647,994	C/A	—	uncertain significance
rs1027240725	18:28,647,995	A/G	—	uncertain significance
rs555492553	18:28,647,996	T/C	—	likely benign
rs1986685195	18:28,648,003	G/C	—	uncertain significance
rs1060502988	18:28,648,004	C/T	—	uncertain significance
rs2144780681	18:28,648,018	T/C	—	uncertain significance
rs2144780689	18:28,648,021	G/T	—	uncertain significance
rs748675400	18:28,648,023	C/A	—	uncertain significance
rs374178074	18:28,648,039	A/C	—	uncertain significance
rs773604134	18:28,648,041	T/C	—	likely benign
rs1352394486	18:28,648,043	C/T	—	uncertain significance
rs1231247825	18:28,648,045	A/T	—	uncertain significance
rs2144780787	18:28,648,047	C/T	—	likely benign
rs1986686755	18:28,648,048	C/T	—	uncertain significance
rs1986686862	18:28,648,049	C/T	—	uncertain significance
rs1365369565	18:28,648,050	A/G	—	likely benign
rs143342988	18:28,648,051	T/C	—	likely benign
rs771112531	18:28,648,056	T/C	—	likely benign
rs2510936625	18:28,648,059	T/C	—	likely benign
rs1004351611	18:28,648,060	T/A	—	uncertain significance
rs727504906	18:28,648,061	G/C	—	uncertain significance
rs2510936640	18:28,648,062	T/C	—	likely benign
rs535014010	18:28,648,063	C/T	—	conflicting classifications of pathogenicity
rs727504823	18:28,648,064	G/A	—	uncertain significance
rs1986688160	18:28,648,066	T/C	—	uncertain significance
rs1395671324	18:28,648,067	C/T	—	uncertain significance
rs61731920	18:28,648,071	G/A	—	likely benign
rs761875347	18:28,648,077	A/G	—	likely benign
rs1567970941	18:28,648,078	C/T	—	uncertain significance
rs1986689119	18:28,648,079	C/A	—	uncertain significance
rs2510936667	18:28,648,081	A/C	—	uncertain significance
rs141873745	18:28,648,084	G/A	—	conflicting classifications of pathogenicity
rs760363798	18:28,648,090	G/A	—	uncertain significance
rs765879750	18:28,648,092	C/T	—	likely benign
rs2510936693	18:28,648,094	C/T	—	uncertain significance
rs1241309506	18:28,648,095	C/T	—	likely benign
rs202031070	18:28,648,096	G/A	—	uncertain significance
rs754433436	18:28,648,097	A/C	—	uncertain significance
rs1986690891	18:28,648,098	T/C	—	likely benign
rs778423904	18:28,648,099	C/T	—	uncertain significance
rs147109895	18:28,648,100	C/T	—	conflicting classifications of pathogenicity
rs1114167344	18:28,648,106	C/T	—	uncertain significance
rs767866098	18:28,648,110	A/T	—	uncertain significance
rs758950880	18:28,648,111	T/C	missense variant	uncertain significance

Showing 100 of 1,313 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.