Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R519Splc

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
4 papers
NM_001005242.3
p.R519Splc
c.1557-1G>C
NM_004572.4
p.R563Splc
c.1689-1G>C
Surrounding Variants
1 paper
NM_004572.4
p.R563S
c.1689A>T
1 paper
NM_001005242.3
p.R519Splc
c.1557-2A>T
1 paper
NM_001005242.3
p.R519Splc
c.1557-2A>G
3 papers
NM_001005242.3
p.N520D
c.1558A>G
1 paper
NM_001005242.3
p.M521V
c.1561A>G
1 paper
NM_004572.4
p.A568V
c.1703C>T
1 paper
NM_004572.4
p.A568delFs
c.1703delG
8 papers
NM_001005242.3
p.A526V
c.1577C>T
1 paper
NM_001005242.3
p.A526fs
c.1576_1577fs
1 paper
NM_001005242.3
p.A526delFs
c.1577delG
1 paper
NM_001005242.3
p.D527H
c.1579G>C
1 paper
NM_001005242.3
p.D527delFs
c.1579delC
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