Varaico: Literature-Extracted Genetic Variants

Gene:PKP3
Variant:p.N138K

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.N138K
c.414C>G
Surrounding Variants
1 paper
NM_007183.4
p.N138K
c.414C>A
1 paper
NM_007183.4
p.A145insFs
c.433_434ins34
1 paper
NM_007183.4
p.A146S
c.436G>T
1 paper
NM_007183.4
p.A146fs
c.436_437fs
1 paper
NM_007183.4
p.Y148_G149ins7
c.442_446ins21
1 paper
NM_007183.4
p.L127L
c.381G>A
1 paper
NM_007183.4
p.P153P
c.459C>G
1 paper
NM_007183.4
p.P112P
c.336G>A
1 paper
NM_007183.4
p.A110A
c.330C>A
1 paper
NM_007183.4
p.R182C
c.544C>T
2 papers
NM_007183.4
p.P188T
c.562C>A
1 paper
NM_007183.4
p.R211S
c.633G>C
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