Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.K52E

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.K52E
c.154A>G
Surrounding Variants
2 papers
NM_001005242.3
p.K52R
c.155A>G
48 papers
NM_001005242.3
p.Q49_T50delFs
c.145_148del4
1 paper
NM_001005242.3
p.K52N
c.156G>T
1 paper
NM_001005242.3
p.K52N
c.156G>C
2 papers
NM_001005242.3
p.K52K
c.156G>A
2 papers
NM_001005242.3
p.S53R
c.157A>C
1 paper
NM_001005242.3
p.S53N
c.158G>A
4 papers
NM_001005242.3
p.T50fs
c.148_149fs
2 papers
NM_001005242.3
p.T50I
c.149C>T
2 papers
NM_001005242.3
p.S53R
c.159C>G
2 papers
NM_001005242.3
p.S53R
c.159C>A
1 paper
NM_001005242.3
p.T50S
c.148A>T
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