Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.N477K

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
2 papers
NM_007183.4
p.N477K
c.1431C>A
Surrounding Variants
2 papers
NM_007183.4
p.N477K
c.1431C>G
1 paper
NM_007183.4
p.S470T
c.1408T>A
1 paper
NM_007183.4
p.A469S
c.1405G>T
1 paper
NM_007183.4
p.L456V
c.1366C>G
1 paper
NM_001303029.2
p.T459M
c.1376C>T
1 paper
NM_007183.4
p.L440L
c.1320G>C
1 paper
NM_007183.4
p.D438E
c.1314C>A
1 paper
NM_007183.4
p.D438E
c.1314C>G
1 paper
NM_007183.4
p.S431A
c.1291T>G
1 paper
NM_007183.4
p.G425G
c.1275G>A
1 paper
NM_007183.4
p.R493C
c.1477C>T
1 paper
NM_007183.4
p.I510M
c.1530C>G
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