Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G322R

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.G322R
c.964G>C
Surrounding Variants
4 papers
NM_001005242.3
p.G322C
c.964G>T
2 papers
NM_001005242.3
p.G322S
c.964G>A
1 paper
NM_001005242.3
p.G322Fs
c.964_965delinsCFs
2 papers
NM_001005242.3
p.V321fs
c.961_962fs
2 papers
NM_001005242.3
p.V321delFs
c.962delA
2 papers
NM_001005242.3
p.Q323fs
c.967_968fs
1 paper
NM_001005242.3
p.V321fs
c.961_962fs
1 paper
NM_001005242.3
p.Q323fs
c.967_968fs
4 papers
NM_001005242.3
p.Q323delFs
c.968_969delCT
2 papers
NM_001005242.3
p.A324fs
c.970_971fs
1 paper
NM_001005242.3
p.A324V
c.971C>T
1 paper
NM_001005242.3
p.A324G
c.971C>G
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