Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L301P

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.L301P
c.902T>C
Surrounding Variants
2 papers
NM_001005242.3
p.R302K
c.905G>A
2 papers
NM_001005242.3
p.T300M
c.899C>T
2 papers
NM_001005242.3
p.T300K
c.899C>A
1 paper
NM_001005242.3
p.R299R
c.897C>G
3 papers
NM_001005242.3
p.R299L
c.896G>T
2 papers
NM_001005242.3
p.R299H
c.896G>A
7 papers
NM_001005242.3
p.R299C
c.895C>T
1 paper
NM_001005242.3
p.R299G
c.895C>G
1 paper
NM_001005242.3
p.T298N
c.893C>A
1 paper
NM_001005242.3
p.G305V
c.914G>T
2 papers
NM_001005242.3
p.G305E
c.914G>A
1 paper
NM_001005242.3
p.G305G
c.915G>A
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