Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L400H

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.L400H
c.1199T>A
Surrounding Variants
1 paper
NM_001005242.3
p.L401M
c.1201C>A
1 paper
NM_001005242.3
p.L401Q
c.1202T>A
1 paper
NM_001005242.3
p.K399R
c.1196A>G
2 papers
NM_001005242.3
p.L401L
c.1203G>T
1 paper
NM_001005242.3
p.Q402H
c.1206G>T
1 paper
NM_001005242.3
p.Q402H
c.1206G>C
1 paper
NM_001005242.3
p.Q402delFs
c.1205delT
2 papers
NM_001005242.3
p.I397N
c.1190T>A
1 paper
NM_001005242.3
p.L401_L403delFs
c.1202_1209del8
2 papers
NM_001005242.3
p.G396D
c.1187G>A
19 papers
NM_001005242.3
p.L404_K405insFs
c.1212_1213insT
1 paper
NM_001005242.3
p.L404fs
c.1210_1211fs
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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."