Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.P244L

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.P244L
c.731C>T
Surrounding Variants
1 paper
NM_001005242.3
p.P244P
c.732C>T
1 paper
NM_001005242.3
p.P244S
c.730C>T
1 paper
NM_001005242.3
p.P244A
c.730C>G
1 paper
NM_001005242.3
p.Y243C
c.728A>G
1 paper
NM_001005242.3
p.R245S
c.735G>C
6 papers
NM_001005242.3
p.T242M
c.725C>T
1 paper
NM_001005242.3
p.P246L
c.737C>T
1 paper
NM_001005242.3
p.L240del1
c.718_720delCAG
1 paper
NM_001005242.3
p.G247E
c.740G>A
1 paper
NM_001005242.3
p.T248S
c.742A>T
1 paper
NM_001005242.3
p.L240P
c.719T>C
1 paper
NM_001005242.3
p.T248S
c.743C>G
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