Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.K456T

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.K456T
c.1367A>C
Surrounding Variants
1 paper
NM_001005242.3
p.K456R
c.1367A>G
1 paper
NM_001005242.3
p.K456Q
c.1366A>C
6 papers
NM_001005242.3
p.Q457*
c.1369C>T
2 papers
NM_001005242.3
p.Q457insFs
c.1369_1370insA
5 papers
NM_001005242.3
p.K456delFs
c.1368delT
1 paper
NM_001005242.3
p.K455E
c.1363A>G
1 paper
NM_001005242.3
p.I458L
c.1372A>T
7 papers
NM_001005242.3
p.I458V
c.1372A>G
1 paper
NM_001005242.3
p.I458fs
c.1372_1373fs
7 papers
NM_001005242.3
p.Q457_I458delFs
c.1369_1372del4
1 paper
NM_001005242.3
p.T459I
c.1376C>T
1 paper
NM_001005242.3
p.T459R
c.1376C>G
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