Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.C18Y

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.C18Y
c.53G>A
Surrounding Variants
1 paper
NM_007183.4
p.S9L
c.26C>T
1 paper
NM_007183.4
p.L8L
c.22C>T
1 paper
NM_007183.4
p.E34K
c.100G>A
1 paper
NM_007183.4
p.G35insFs
c.103_104ins7
1 paper
NM_007183.4
p.G35fs
c.103_104fs
1 paper
NM_007183.4
p.R40W
c.118C>T
1 paper
NM_007183.4
p.A44V
c.131C>T
1 paper
NM_007183.4
p.V50insFs
c.148_149ins7
1 paper
NM_007183.4
p.A73A
c.219C>T
1 paper
NM_007183.4
p.G78V
c.233G>T
1 paper
NM_007183.4
p.R81T
c.242G>C
1 paper
NM_007183.4
p.G90S
c.268G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."