Varaico: Literature-Extracted Genetic Variants

Gene:PKP1
Variant:p.L560_M561Splc

PKP1

175 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 276–316UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 1

HGNC Alias Symbol

B6P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001005337.3
p.L560_M561Splc
c.1680+1G>A
Surrounding Variants
1 paper
NM_001005337.3
p.A546T
c.1636G>A
1 paper
NM_001005337.3
p.D541N
c.1621G>A
1 paper
NM_001005337.3
p.M535L
c.1603A>C
1 paper
NM_001005337.3
p.M535L
c.1603A>T
1 paper
NM_001005337.3
p.R529C
c.1585C>T
1 paper
NM_001005337.3
p.I528M
c.1584C>G
1 paper
NM_001005337.3
p.G520S
c.1558G>A
1 paper
NM_001005337.3
p.C507W
c.1521C>G
1 paper
NM_001005337.3
p.Y505C
c.1514A>G
1 paper
NM_001005337.3
p.M501_N502Splc
c.1504-21T>A
1 paper
NM_001005337.3
p.M501_N502Splc
c.1504-31T>C
1 paper
NM_001005337.3
p.M501_N502Splc
c.1503+22C>T
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