Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G548delFs

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
29 papers
NM_001005242.3
p.G548delFs
c.1643delC
Surrounding Variants
2 papers
NM_001005242.3
p.G548fs
c.1642_1643fs
1 paper
NM_001005242.3
p.G548V
c.1643G>T
1 paper
NM_001005242.3
p.G548*
c.1642G>T
11 papers
NM_001005242.3
p.G548fs
c.1642_1643fs
1 paper
NM_001005242.3
p.I550V
c.1648A>G
1 paper
NM_004572.4
p.I594T
c.1781T>C
1 paper
NM_001005242.3
p.R547G
c.1639A>G
1 paper
NM_001005242.3
p.A551T
c.1651G>A
2 papers
NM_001005242.3
p.V546I
c.1636G>A
2 papers
NM_001005242.3
p.H544insFs
c.1631_1632insTT
1 paper
NM_001005242.3
p.H544insFs
c.1630_1631insTT
1 paper
NM_001005242.3
p.I550_Y553delFs
c.1648_1657del10
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