Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.D26Y

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.D26Y
c.76G>T
Surrounding Variants
38 papers
NM_001005242.3
p.D26N
c.76G>A
1 paper
NM_001005242.3
p.D26G
c.77A>G
1 paper
NM_001005242.3
p.Q24_L25Fs
c.72_73delinsAFs
1 paper
NM_001005242.3
p.L25L
c.73C>T
2 papers
NM_001005242.3
p.Q24delFs
c.72delT
1 paper
NM_001005242.3
p.S28A
c.82T>G
1 paper
NM_001005242.3
p.Q24E
c.70C>G
1 paper
NM_001005242.3
p.G23delFs
c.67delC
1 paper
NM_001005242.3
p.Q20_G23delFs
c.58_68del11
3 papers
NM_001005242.3
p.G23E
c.68G>A
1 paper
NM_001005242.3
p.S29fs
c.85_86fs
1 paper
NM_001005242.3
p.S29R
c.85A>C
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