Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.V415delFs

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.V415delFs
c.1243_1244delAC
Surrounding Variants
1 paper
NM_001005242.3
p.G417A
c.1250G>C
1 paper
NM_001005242.3
p.G417G
c.1251G>T
1 paper
NM_001005242.3
p.G417G
c.1251G>A
1 paper
NM_001005242.3
p.C416*
c.1248T>A
2 papers
NM_001005242.3
p.A418fs
c.1252_1253fs
1 paper
NM_001005242.3
p.A418insFs
c.1253_1254ins4
1 paper
NM_001005242.3
p.A418D
c.1253C>A
1 paper
NM_001005242.3
p.A418delFs
c.1252delC
1 paper
NM_001005242.3
p.A418fs
c.1252_1253fs
1 paper
NM_001005242.3
p.V415G
c.1244T>G
3 papers
NM_001005242.3
p.L419S
c.1256T>C
1 paper
NM_001005242.3
p.V415A
c.1244T>C
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