Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.Q356delFs

PKP3

91 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 350–390UCSCArmadillo/beta-catenin-like repeat
Armaa 392–432UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007183.4
p.Q356delFs
c.1067_1068delAG
Surrounding Variants
1 paper
NM_007183.4
p.A340V
c.1019C>T
1 paper
NM_007183.4
p.S323L
c.968C>T
2 papers
NM_007183.4
p.S323_V325del0
c.969_974del6
1 paper
NM_007183.4
p.D320ins1
c.959_960insCCA
2 papers
NM_007183.4
p.H306_R307ins0
c.917_919dupACC
1 paper
NM_007183.4
p.V297L
c.889G>C
1 paper
NM_007183.4
p.V297L
c.889G>T
1 paper
NM_007183.4
p.D296delFs
c.888delC
1 paper
NM_007183.4
p.A289D
c.866C>A
1 paper
NM_007183.4
p.L288L
c.864G>A
5 papers
NM_007183.4
p.R277P
c.830G>C
1 paper
NM_007183.4
p.E273E
c.819G>A
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