Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.E551*

PKP3

91 papers

RefSeq 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...

Pfam Domains

Armaa 350–390UCSCArmadillo/beta-catenin-like repeat
Armaa 392–432UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007183.4
p.E551*
c.1651G>T
Surrounding Variants
1 paper
NM_007183.4
p.R555R
c.1665C>A
1 paper
NM_007183.4
p.P563T
c.1687C>A
1 paper
NM_007183.4
p.C569S
c.1705T>A
1 paper
NM_007183.4
p.C569S
c.1706G>C
1 paper
NM_007183.4
p.P572L
c.1715C>T
1 paper
NM_007183.4
p.V524fs
c.1570_1571fs
2 papers
NM_007183.4
p.S523N
c.1568G>A
1 paper
NM_007183.4
p.K522_S523Splc
c.1567-27G>A
1 paper
NM_007183.4
p.K522K
c.1566G>A
1 paper
NM_007183.4
p.L514L
c.1542G>A
1 paper
NM_007183.4
p.I510M
c.1530C>G
1 paper
NM_007183.4
p.R493C
c.1477C>T
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