Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.H318P

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
5 papers
NM_001005242.3
p.H318P
c.953A>C
Surrounding Variants
1 paper
NM_001005242.3
p.H318R
c.953A>G
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.L319S
c.956T>C
3 papers
NM_001005242.3
p.A317V
c.950C>T
1 paper
NM_001005242.3
p.A317E
c.950C>A
1 paper
NM_001005242.3
p.R316_A317delFs
c.948_949delCT
1 paper
NM_001005242.3
p.V321fs
c.961_962fs
2 papers
NM_001005242.3
p.V321fs
c.961_962fs
2 papers
NM_001005242.3
p.V321delFs
c.962delA
4 papers
NM_001005242.3
p.G322C
c.964G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."