Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G5delFs

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
3 papers
NM_001005242.3
p.G5delFs
c.14delC
Surrounding Variants
3 papers
NM_001005242.3
p.G5insFs
c.14_15insC
5 papers
NM_001005242.3
p.G5D
c.14G>A
1 paper
NM_001005242.3
p.P4insFs
c.11dupC
1 paper
NM_001005242.3
p.A3_P4insFs
c.9_12dup4
2 papers
NM_001005242.3
p.G5fs
c.13_14fs
1 paper
NM_001005242.3
p.P4_G5insFs
c.12_13insT
1 paper
NM_001005242.3
p.P7S
c.19C>T
1 paper
NM_001005242.3
p.P4_G5ins7
c.10_14ins21
1 paper
NM_001005242.3
p.P7Q
c.20C>A
1 paper
NM_001005242.3
p.A3insFs
c.7dupG
1 paper
NM_001005242.3
p.M1_A2del2
c.1_5del6
1 paper
NM_001005242.3
p.A8V
c.23C>T
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