Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.P273A

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.P273A
c.817C>G
Surrounding Variants
1 paper
NM_001005242.3
p.P273S
c.817C>T
2 papers
NM_001005242.3
p.P273T
c.817C>A
1 paper
NM_001005242.3
p.R272S
c.816G>T
1 paper
NM_001005242.3
p.R272S
c.816G>C
1 paper
NM_001005242.3
p.P273L
c.818C>T
2 papers
NM_001005242.3
p.P273P
c.819G>A
1 paper
NM_001005242.3
p.R272K
c.815G>A
1 paper
NM_001005242.3
p.Q270_V271delFs
c.810_813del4
1 paper
NM_001005242.3
p.L274R
c.821T>G
2 papers
NM_001005242.3
p.L274P
c.821T>C
1 paper
NM_001005242.3
p.V271G
c.812T>G
2 papers
NM_001005242.3
p.V271L
c.811G>C
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