Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.R277P

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
5 papers
NM_007183.4
p.R277P
c.830G>C
Surrounding Variants
1 paper
NM_007183.4
p.E273E
c.819G>A
1 paper
NM_007183.4
p.L288L
c.864G>A
1 paper
NM_007183.4
p.A289D
c.866C>A
1 paper
NM_001303029.2
p.G277A
c.830G>C
1 paper
NM_007183.4
p.D296delFs
c.888delC
1 paper
NM_007183.4
p.V297L
c.889G>C
1 paper
NM_007183.4
p.V297L
c.889G>T
2 papers
NM_007183.4
p.H306_R307ins0
c.917_919dupACC
1 paper
NM_007183.4
p.A247P
c.739G>C
1 paper
NM_007183.4
p.S240R
c.720C>A
1 paper
NM_007183.4
p.S240R
c.720C>G
1 paper
NM_007183.4
p.S240R
c.718A>C
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