Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.N408K

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.N408K
c.1224T>A
Surrounding Variants
1 paper
NM_001005242.3
p.N408K
c.1224T>G
1 paper
NM_001005242.3
p.N408Y
c.1222A>T
1 paper
NM_001005242.3
p.D410fs
c.1228_1229fs
1 paper
NM_001005242.3
p.Q407*
c.1219C>T
1 paper
NM_001005242.3
p.V406delFs
c.1218delA
5 papers
NM_001005242.3
p.D410insFs
c.1228dupG
3 papers
NM_001005242.3
p.V406fs
c.1216_1217fs
2 papers
NM_001005242.3
p.D410fs
c.1228_1229fs
2 papers
NM_001005242.3
p.V406delFs
c.1216delC
2 papers
NM_001005242.3
p.V411I
c.1231G>A
1 paper
NM_001005242.3
p.V411insFs
c.1231dupG
1 paper
NM_001005242.3
p.V411A
c.1232T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."