Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.V445E

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.V445E
c.1334T>A
Surrounding Variants
1 paper
NM_001005242.3
p.V445G
c.1334T>G
2 papers
NM_001005242.3
p.V445fs
c.1333_1334fs
1 paper
NM_001005242.3
p.Q444R
c.1331A>G
1 paper
NM_001005242.3
p.L442fs
c.1324_1325fs
2 papers
NM_001005242.3
p.E432_R441insFs
c.1295_1323dup29
1 paper
NM_001005242.3
p.R441Q
c.1322G>A
1 paper
NM_001005242.3
p.R441W
c.1321C>T
1 paper
NM_001005242.3
p.L436_V439del0
c.1307_1315del9
1 paper
NM_001005242.3
p.R450S
c.1350A>T
1 paper
NM_001005242.3
p.R450S
c.1350A>C
1 paper
NM_001005242.3
p.D451N
c.1351G>A
1 paper
NM_001005242.3
p.V439G
c.1316T>G
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