Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.A317E

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.A317E
c.950C>A
Surrounding Variants
3 papers
NM_001005242.3
p.A317V
c.950C>T
1 paper
NM_001005242.3
p.R316_A317delFs
c.948_949delCT
3 papers
NM_001005242.3
p.V310_A317insFs
c.929_951dup23
1 paper
NM_001005242.3
p.A317delFs
c.951delC
1 paper
NM_001005242.3
p.H318fs
c.952_953fs
1 paper
NM_001005242.3
p.H318R
c.953A>G
5 papers
NM_001005242.3
p.H318P
c.953A>C
1 paper
NM_001005242.3
p.L319S
c.956T>C
2 papers
NM_001005242.3
p.G314E
c.941G>A
3 papers
NM_001005242.3
p.G314R
c.940G>C
3 papers
NM_001005242.3
p.G314R
c.940G>A
1 paper
NM_001005242.3
p.V321fs
c.961_962fs
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