Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Q20H

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.Q20H
c.60G>C
Surrounding Variants
1 paper
NM_001005242.3
p.Q20H
c.60G>T
1 paper
NM_001005242.3
p.Q19P
c.56A>C
2 papers
NM_001005242.3
p.Q19*
c.55C>T
1 paper
NM_001005242.3
p.G18D
c.53G>A
1 paper
NM_001005242.3
p.G18R
c.52G>C
3 papers
NM_001005242.3
p.G23E
c.68G>A
1 paper
NM_001005242.3
p.G23delFs
c.67delC
1 paper
NM_001005242.3
p.Q20_G23delFs
c.58_68del11
1 paper
NM_001005242.3
p.L17Q
c.50T>A
1 paper
NM_001005242.3
p.Q24E
c.70C>G
1 paper
NM_001005242.3
p.L25L
c.73C>T
2 papers
NM_001005242.3
p.Q24delFs
c.72delT
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