Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.P103delFs

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.P103delFs
c.308_309delAG
Surrounding Variants
3 papers
NM_001005242.3
p.P105fs
c.313_314fs
1 paper
NM_001005242.3
p.P105S
c.313C>T
2 papers
NM_001005242.3
p.P103A
c.307C>G
1 paper
NM_001005242.3
p.P105A
c.313C>G
4 papers
NM_001005242.3
p.P103T
c.307C>A
1 paper
NM_001005242.3
p.P105L
c.314C>T
3 papers
NM_001005242.3
p.P105delFs
c.314delG
1 paper
NM_001005242.3
p.S102P
c.304T>C
11 papers
NM_001005242.3
p.R101H
c.302G>A
1 paper
NM_001005242.3
p.T107P
c.319A>C
1 paper
NM_001005242.3
p.T107I
c.320C>T
1 paper
NM_001005242.3
p.G100G
c.300C>G
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