Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.F424L

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.F424L
c.1272T>G
Surrounding Variants
1 paper
NM_001005242.3
p.F424L
c.1272T>A
1 paper
NM_001005242.3
p.F424C
c.1271T>G
9 papers
NM_001005242.3
p.F424S
c.1271T>C
1 paper
NM_001005242.3
p.F424L
c.1270T>C
1 paper
NM_001005242.3
p.L422delFs
c.1264_1265delAA
1 paper
NM_001005242.3
p.N427fs
c.1279_1280fs
1 paper
NM_001005242.3
p.N427H
c.1279A>C
1 paper
NM_001005242.3
p.N427S
c.1280A>G
1 paper
NM_001005242.3
p.L419_N427insFs
c.1255_1279dup25
2 papers
NM_001005242.3
p.L422fs
c.1264_1265fs
1 paper
NM_001005242.3
p.D428insFs
c.1282_1283insA
1 paper
NM_001005242.3
p.D428H
c.1282G>C
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