Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.A3insFs

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.A3insFs
c.7dupG
Surrounding Variants
1 paper
NM_001005242.3
p.M1_A2del2
c.1_5del6
1 paper
NM_001005242.3
p.P4_G5ins7
c.10_14ins21
1 paper
NM_001005242.3
p.A2A
c.6A>T
1 paper
NM_001005242.3
p.A2insFs
c.4dupG
1 paper
NM_001005242.3
p.A2T
c.4G>A
1 paper
NM_001005242.3
p.P4_G5insFs
c.12_13insT
1 paper
NM_001005242.3
p.M1I
c.3G>T
3 papers
NM_001005242.3
p.M1insFs
c.2dupT
1 paper
NM_001005242.3
p.P4insFs
c.11dupC
1 paper
NM_001005242.3
p.A3_P4insFs
c.9_12dup4
1 paper
NM_001005242.3
p.M1I
c.3G>C
1 paper
NM_001005242.3
p.M1I
c.3G>A
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