Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.A414A

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.A414A
c.1242T>A
Surrounding Variants
1 paper
NM_001005242.3
p.A414delFs
c.1241delG
1 paper
NM_001005242.3
p.A414G
c.1241C>G
1 paper
NM_001005242.3
p.V415G
c.1244T>G
1 paper
NM_001005242.3
p.V415A
c.1244T>C
2 papers
NM_001005242.3
p.A414fs
c.1240_1241fs
1 paper
NM_001005242.3
p.R413L
c.1238G>T
1 paper
NM_001005242.3
p.R413Q
c.1238G>A
40 papers
NM_001005242.3
p.R413*
c.1237C>T
1 paper
NM_001005242.3
p.R413R
c.1237C>A
1 paper
NM_001005242.3
p.C416*
c.1248T>A
1 paper
NM_001005242.3
p.G417A
c.1250G>C
1 paper
NM_001005242.3
p.V415delFs
c.1243_1244delAC
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