Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.N74K

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
2 papers
NM_001005242.3
p.N74K
c.222C>G
Surrounding Variants
1 paper
NM_001005242.3
p.N74fs
c.220_221fs
2 papers
NM_001005242.3
p.N74K
c.222C>A
3 papers
NM_001005242.3
p.G75R
c.223G>A
4 papers
NM_001005242.3
p.G75Splc
c.223+1G>A
1 paper
NM_001005242.3
p.G75Splc
c.223+2T>C
5 papers
NM_001005242.3
p.V72_G73insFs
c.216_217insG
1 paper
NM_001005242.3
p.G73insFs
c.217_218dupGG
1 paper
NM_001005242.3
p.V72delFs
c.215delA
1 paper
NM_001005242.3
p.G75Splc
c.223+6T>G
3 papers
NM_001005242.3
p.V72L
c.214G>T
3 papers
NM_001005242.3
p.V72L
c.214G>C
1 paper
NM_001005242.3
p.V72M
c.214G>A
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