Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R171K

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.R171K
c.512G>A
Surrounding Variants
4 papers
NM_001005242.3
p.S172R
c.514A>C
1 paper
NM_001005242.3
p.Q170*
c.508C>T
4 papers
NM_001005242.3
p.S172R
c.516C>G
4 papers
NM_001005242.3
p.S172R
c.516C>A
1 paper
NM_001005242.3
p.Q173*
c.517C>T
1 paper
NM_001005242.3
p.S169R
c.507C>G
1 paper
NM_001005242.3
p.S169R
c.507C>A
13 papers
NM_001005242.3
p.S169G
c.505A>G
1 paper
NM_001005242.3
p.S169R
c.505A>C
1 paper
NM_001005242.3
p.D165_A174delins
c.493_520delinsGCGT
3 papers
NM_001005242.3
p.Y168*
c.504C>G
3 papers
NM_001005242.3
p.Y168*
c.504C>A
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