Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.M110fs

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.M110fs
c.328_329fs
Surrounding Variants
1 paper
NM_001005242.3
p.M110T
c.329T>C
1 paper
NM_001005242.3
p.M110delFs
c.328delT
4 papers
NM_001005242.3
p.D109V
c.326A>T
1 paper
NM_001005242.3
p.D109G
c.326A>G
1 paper
NM_001005242.3
p.D109A
c.326A>C
2 papers
NM_001005242.3
p.D109N
c.325G>A
2 papers
NM_001005242.3
p.D109fs
c.325_326fs
1 paper
NM_001005242.3
p.Y108H
c.322T>C
1 paper
NM_001005242.3
p.Y108N
c.322T>A
2 papers
NM_001005242.3
p.K112N
c.336G>T
1 paper
NM_001005242.3
p.K112insFs
c.335dupA
2 papers
NM_001005242.3
p.K112N
c.336G>C
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