Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S151delFs

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
2 papers
NM_001005242.3
p.S151delFs
c.451delA
Surrounding Variants
2 papers
NM_001005242.3
p.S151fs
c.451_452fs
1 paper
NM_001005242.3
p.I150M
c.450T>G
1 paper
NM_001005242.3
p.P152S
c.454C>T
1 paper
NM_001005242.3
p.I150S
c.449T>G
15 papers
NM_001005242.3
p.L148_S151del4
c.442_452del12
1 paper
NM_001005242.3
p.E149D
c.447G>T
1 paper
NM_001005242.3
p.E149D
c.447G>C
2 papers
NM_001005242.3
p.D153N
c.457G>A
1 paper
NM_001005242.3
p.E149*
c.445G>T
1 paper
NM_001005242.3
p.L145_L148del4
c.433_443del12
1 paper
NM_001005242.3
p.D153E
c.459C>G
1 paper
NM_001005242.3
p.D153E
c.459C>A
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