Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L404fs

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.L404fs
c.1210_1211fs
Surrounding Variants
19 papers
NM_001005242.3
p.L404_K405insFs
c.1212_1213insT
1 paper
NM_001005242.3
p.K405*
c.1213A>T
1 paper
NM_001005242.3
p.L401_L403delFs
c.1202_1209del8
9 papers
NM_001005242.3
p.V406fs
c.1216_1217fs
2 papers
NM_001005242.3
p.V406delFs
c.1216delC
3 papers
NM_001005242.3
p.V406fs
c.1216_1217fs
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
1 paper
NM_001005242.3
p.Q407*
c.1219C>T
1 paper
NM_001005242.3
p.V406delFs
c.1218delA
2 papers
NM_001005242.3
p.L401L
c.1203G>T
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