Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.N421S

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.N421S
c.1262A>G
Surrounding Variants
2 papers
NM_001005242.3
p.L422fs
c.1264_1265fs
1 paper
NM_001005242.3
p.L422delFs
c.1264_1265delAA
3 papers
NM_001005242.3
p.L419S
c.1256T>C
1 paper
NM_001005242.3
p.F424L
c.1270T>C
1 paper
NM_001005242.3
p.A418fs
c.1252_1253fs
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.A418insFs
c.1253_1254ins4
1 paper
NM_001005242.3
p.A418D
c.1253C>A
1 paper
NM_001005242.3
p.A418delFs
c.1252delC
1 paper
NM_001005242.3
p.F424L
c.1272T>G
1 paper
NM_001005242.3
p.F424L
c.1272T>A
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