Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.D451N

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.D451N
c.1351G>A
Surrounding Variants
1 paper
NM_001005242.3
p.R450S
c.1350A>T
1 paper
NM_001005242.3
p.R450S
c.1350A>C
2 papers
NM_001005242.3
p.L452*
c.1355T>A
1 paper
NM_001005242.3
p.K455E
c.1363A>G
1 paper
NM_001005242.3
p.K456Q
c.1366A>C
2 papers
NM_001005242.3
p.V445fs
c.1333_1334fs
1 paper
NM_001005242.3
p.K456R
c.1367A>G
1 paper
NM_001005242.3
p.K456T
c.1367A>C
1 paper
NM_001005242.3
p.V445G
c.1334T>G
1 paper
NM_001005242.3
p.V445E
c.1334T>A
6 papers
NM_001005242.3
p.Q457*
c.1369C>T
2 papers
NM_001005242.3
p.Q457insFs
c.1369_1370insA
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