PKP1

plakophilin 1

Summary

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Known Variants294 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116421730	1:201,252,465	C/A	—	benign
rs1655631765	1:201,252,596	G/T	—	uncertain significance
rs861275	1:201,252,701	T/A	—	benign
rs149821471	1:201,252,715	C/G	—	likely benign
rs886045807	1:201,252,735	G/A	—	uncertain significance
rs117651274	1:201,252,745	C/A	—	benign
rs760122260	1:201,252,845	G/T	—	uncertain significance
rs2268147	1:201,252,866	C/T	—	benign
rs1390932890	1:201,252,957	G/A	—	uncertain significance
rs369806569	1:201,252,966	A/T	—	uncertain significance
rs181972441	1:201,252,981	C/T	—	uncertain significance
rs200433412	1:201,252,984	C/A	—	uncertain significance
rs778655336	1:201,253,029	C/A	—	likely benign
rs373397502	1:201,253,039	G/C	—	likely benign
rs777513290	1:201,253,042	C/T	—	likely benign
rs12083583	1:201,253,119	C/G	—	benign
rs854715	1:201,253,281	A/G	—	benign
rs860554	1:201,262,432	C/T	intron variant	—
rs832143	1:201,262,755	G/T	—	benign
rs80236517	1:201,262,926	C/T	—	benign
rs2102154917	1:201,263,069	G/C	—	likely pathogenic
rs2526690686	1:201,263,072	T/A	—	uncertain significance
rs2526690691	1:201,263,073	C/A	—	uncertain significance
rs147328328	1:201,263,108	G/A	—	conflicting classifications of pathogenicity
rs769244881	1:201,263,109	G/A	—	uncertain significance
rs141060367	1:201,263,130	A/G	—	conflicting classifications of pathogenicity
rs146997188	1:201,263,139	A/G	—	uncertain significance
rs111264274	1:201,263,161	A/G	—	likely benign
rs367643085	1:201,263,172	C/T	—	uncertain significance
rs1779301	1:201,263,330	C/G	—	benign
rs1772855	1:201,280,945	C/G	—	—
rs1772860	1:201,282,167	C/G	—	benign
rs750189404	1:201,282,289	G/T	—	likely benign
rs147062963	1:201,282,331	G/A	—	uncertain significance
rs536458815	1:201,282,333	C/T	—	uncertain significance
rs34626929	1:201,282,334	G/A	—	benign
rs769907783	1:201,282,362	C/T	—	likely benign
rs886045808	1:201,282,365	G/C	—	uncertain significance
rs775588543	1:201,282,370	G/A	—	uncertain significance
rs371948391	1:201,282,376	A/G	—	uncertain significance
rs200423351	1:201,282,402	G/A	—	uncertain significance
rs374045033	1:201,282,404	C/T	—	conflicting classifications of pathogenicity
rs77893096	1:201,282,405	G/A	—	likely benign
rs149029415	1:201,282,440	G/T	—	uncertain significance
rs759293051	1:201,282,443	G/A	—	likely benign
rs367893541	1:201,282,462	C/A	—	conflicting classifications of pathogenicity
rs34704938	1:201,282,469	G/A	—	benign
rs748173315	1:201,282,530	G/A	—	benign
rs148156855	1:201,282,531	A/C	—	likely benign
rs35507614	1:201,282,573	A/G	—	benign
rs767009885	1:201,282,578	G/T	—	uncertain significance
rs761063340	1:201,282,585	C/T	—	uncertain significance
rs144063217	1:201,282,591	C/T	—	uncertain significance
rs78314242	1:201,282,592	G/A	—	likely benign
rs148914791	1:201,282,596	G/A	—	likely benign
rs2526746665	1:201,282,661	C/A	—	uncertain significance
rs753010264	1:201,282,707	G/A	—	likely benign
rs41269937	1:201,285,399	G/A	—	benign
rs201629569	1:201,285,699	C/T	—	benign
rs7514146	1:201,285,712	C/T	—	benign
rs201749145	1:201,285,729	T/C	—	uncertain significance
rs142131454	1:201,285,758	A/T	—	uncertain significance
rs1779297	1:201,285,759	A/A	—	benign
rs773235619	1:201,285,769	A/C	—	uncertain significance
rs369999615	1:201,285,770	T/C	—	uncertain significance
rs752617382	1:201,285,776	C/T	—	uncertain significance
rs886045809	1:201,285,798	C/T	—	uncertain significance
rs886045810	1:201,285,801	C/G	—	uncertain significance
rs780602512	1:201,285,803	A/T	—	uncertain significance
rs191741262	1:201,285,805	G/T	—	likely benign
rs1553275192	1:201,285,820	C/T	—	likely pathogenic
rs1534051	1:201,285,909	A/G	—	benign
rs79130274	1:201,285,985	A/G	—	benign
rs1772823	1:201,286,628	C/G	—	benign
rs1794867	1:201,286,678	C/T	—	benign
rs1656793948	1:201,286,700	G/A	—	uncertain significance
rs150414253	1:201,286,736	C/G	—	uncertain significance
rs368718493	1:201,286,742	C/G	—	uncertain significance
rs552414505	1:201,286,752	A/C	—	likely benign
rs190053583	1:201,286,759	C/T	—	likely benign
rs143092948	1:201,286,760	G/A	—	uncertain significance
rs121918354	1:201,286,763	C/T	stop gained	pathogenic
rs1722779	1:201,286,771	C/T	—	benign
rs142112484	1:201,286,772	G/T	—	uncertain significance
rs778090662	1:201,286,779	G/A	—	uncertain significance
rs769754162	1:201,286,788	G/A	—	uncertain significance
rs200097129	1:201,286,798	G/A	—	uncertain significance
rs759152117	1:201,286,829	C/T	—	uncertain significance
rs139437589	1:201,286,834	G/A	—	likely benign
rs781540602	1:201,286,848	G/A	—	uncertain significance
rs147633517	1:201,286,849	C/T	—	uncertain significance
rs148303000	1:201,286,861	C/T	—	likely benign
rs886045811	1:201,286,867	G/A	—	uncertain significance
rs375682551	1:201,286,877	G/A	—	uncertain significance
rs770845681	1:201,286,883	G/A	—	likely benign
rs969074166	1:201,286,885	C/G	—	likely benign
rs776387347	1:201,286,886	G/A	—	uncertain significance
rs377369198	1:201,286,927	G/A	—	likely benign
rs916398	1:201,287,529	T/C	—	benign
rs769266631	1:201,287,730	G/T	—	likely benign

Showing 100 of 294 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.