Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L17Q

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.L17Q
c.50T>A
Surrounding Variants
1 paper
NM_001005242.3
p.G18R
c.52G>C
1 paper
NM_001005242.3
p.G18D
c.53G>A
2 papers
NM_001005242.3
p.Q19*
c.55C>T
1 paper
NM_001005242.3
p.T15T
c.45C>T
1 paper
NM_001005242.3
p.Q19P
c.56A>C
8 papers
NM_001005242.3
p.R14del1
c.40_41delCCG
1 paper
NM_001005242.3
p.R14R
c.42G>T
1 paper
NM_001005242.3
p.R14L
c.41G>T
1 paper
NM_001005242.3
p.Q20H
c.60G>T
1 paper
NM_001005242.3
p.Q20H
c.60G>C
1 paper
NM_001005242.3
p.Y12delFs
c.35delT
1 paper
NM_001005242.3
p.Y12C
c.35A>G
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