Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.Y741fs

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.Y741fs
c.2221_2222fs
Surrounding Variants
1 paper
NM_007183.4
p.L745I
c.2233C>A
3 papers
NM_007183.4
p.R746*
c.2236C>T
1 paper
NM_007183.4
p.K754Q
c.2260A>C
1 paper
NM_007183.4
p.P705P
c.2115G>A
2 papers
NM_007183.4
p.A786V
c.2357C>T
1 paper
NM_007183.4
p.I679F
c.2035A>T
1 paper
NM_007183.4
p.G677S
c.2029G>A
2 papers
NM_007183.4
p.R673C
c.2017C>T
1 paper
NM_007183.4
p.R663C
c.1987C>T
1 paper
NM_007183.4
p.R790W
c.2368C>T
1 paper
NM_007183.4
p.R622Q
c.1865G>A
1 paper
NM_007183.4
p.L614P
c.1841T>C
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