Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.L145delFs

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.L145delFs
c.433_434delAG
Surrounding Variants
1 paper
NM_001005242.3
p.L145P
c.434T>C
1 paper
NM_001005242.3
p.R146G
c.436A>G
2 papers
NM_001005242.3
p.R146K
c.437G>A
1 paper
NM_001005242.3
p.H143R
c.428A>G
1 paper
NM_001005242.3
p.H143Y
c.427C>T
1 paper
NM_001005242.3
p.R142S
c.426G>T
1 paper
NM_001005242.3
p.R142S
c.426G>C
1 paper
NM_001005242.3
p.E149*
c.445G>T
1 paper
NM_001005242.3
p.R142T
c.425G>C
1 paper
NM_001005242.3
p.L145_L148del4
c.433_443del12
1 paper
NM_001005242.3
p.E149D
c.447G>T
1 paper
NM_001005242.3
p.E149D
c.447G>C
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