Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L92*

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
17 papers
NM_001005242.3
p.L92*
c.275T>A
Surrounding Variants
1 paper
NM_001005242.3
p.L92S
c.275T>C
1 paper
NM_001005242.3
p.L92V
c.274T>G
1 paper
NM_001005242.3
p.L92F
c.276G>T
1 paper
NM_001005242.3
p.L92F
c.276G>C
1 paper
NM_001005242.3
p.V93F
c.277G>T
1 paper
NM_001005242.3
p.V93I
c.277G>A
1 paper
NM_001005242.3
p.L90_H91delFs
c.269_272del4
2 papers
NM_001005242.3
p.H91fs
c.271_272fs
1 paper
NM_001005242.3
p.L90fs
c.268_269fs
1 paper
NM_001005242.3
p.L90V
c.268C>G
1 paper
NM_001005242.3
p.N89Y
c.265A>T
1 paper
NM_001005242.3
p.N89H
c.265A>C
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