Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R245S

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.R245S
c.735G>C
Surrounding Variants
1 paper
NM_001005242.3
p.P246L
c.737C>T
1 paper
NM_001005242.3
p.P244P
c.732C>T
1 paper
NM_001005242.3
p.P244L
c.731C>T
1 paper
NM_001005242.3
p.G247E
c.740G>A
1 paper
NM_001005242.3
p.P244S
c.730C>T
1 paper
NM_001005242.3
p.P244A
c.730C>G
1 paper
NM_001005242.3
p.T248S
c.742A>T
1 paper
NM_001005242.3
p.Y243C
c.728A>G
1 paper
NM_001005242.3
p.T248S
c.743C>G
1 paper
NM_001005242.3
p.P246_T248insFs
c.738_742dup5
6 papers
NM_001005242.3
p.T242M
c.725C>T
1 paper
NM_001005242.3
p.P244_T248delFs
c.731_744del14
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."