Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Y10C

PKP2

765 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 384–424UCSCArmadillo/beta-catenin-like repeat
Armaa 426–467UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005242.3
p.Y10C
c.29A>G
Surrounding Variants
1 paper
NM_001005242.3
p.Y10insFs
c.28_29insA
1 paper
NM_001005242.3
p.G11C
c.31G>T
1 paper
NM_001005242.3
p.A8V
c.23C>T
1 paper
NM_001005242.3
p.Y12C
c.35A>G
1 paper
NM_001005242.3
p.G11_Y12delFs
c.33_34delAG
1 paper
NM_001005242.3
p.Y12delFs
c.35delT
1 paper
NM_001005242.3
p.P7Q
c.20C>A
1 paper
NM_001005242.3
p.P7S
c.19C>T
1 paper
NM_001005242.3
p.R14L
c.41G>T
1 paper
NM_001005242.3
p.R14R
c.42G>T
3 papers
NM_001005242.3
p.G5delFs
c.14delC
8 papers
NM_001005242.3
p.R14del1
c.40_41delCCG
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