Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.M1delFs

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.M1delFs
c.1_2delAT
Surrounding Variants
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.M1I
c.3G>C
1 paper
NM_001005242.3
p.M1I
c.3G>A
3 papers
NM_001005242.3
p.M1insFs
c.1dupA
1 paper
NM_001005242.3
p.M1T
c.2T>C
1 paper
NM_001005242.3
p.M1K
c.2T>A
1 paper
NM_001005242.3
p.A2T
c.4G>A
1 paper
NM_001005242.3
p.A2insFs
c.4dupG
2 papers
NM_001005242.3
p.M1L
c.1A>T
2 papers
NM_001005242.3
p.M1V
c.1A>G
1 paper
NM_001005242.3
p.M1L
c.1A>C
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