Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R390T

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.R390T
c.1169G>C
Surrounding Variants
1 paper
NM_001005242.3
p.R390_V391Splc
c.1170+1G>C
7 papers
NM_001005242.3
p.R390_V391Splc
c.1170+1G>A
2 papers
NM_001005242.3
p.R390_V391Splc
c.1170+2T>A
1 paper
NM_001005242.3
p.R388P
c.1163G>C
2 papers
NM_001005242.3
p.R388Q
c.1163G>A
18 papers
NM_001005242.3
p.R388W
c.1162C>T
2 papers
NM_001005242.3
p.R388G
c.1162C>G
1 paper
NM_001005242.3
p.E386*
c.1156G>T
1 paper
NM_001005242.3
p.S385P
c.1153T>C
1 paper
NM_001005242.3
p.K384R
c.1151A>G
1 paper
NM_001005242.3
p.Q383*
c.1147C>T
1 paper
NM_001005242.3
p.F382L
c.1146C>G
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