Varaico: Literature-Extracted Genetic Variants

PKP4

109 papers

RefSeq Summary

Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins ...

Pfam Domains

Armaa 559–599UCSCArmadillo/beta-catenin-like repeat

Armaa 603–644UCSCArmadillo/beta-catenin-like repeat

Armaa 863–901UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

plakophilin 4

HGNC Alias Symbol

p0071

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003628.6

p.R18H

c.53G>A

Surrounding Variants

1 paper

NM_003628.6

p.A22A

c.66C>T

1 paper

NM_003628.6

p.M28L

c.82A>C

1 paper

NM_003628.6

p.M28L

c.82A>T

1 paper

NM_003628.6

p.S40A

c.118T>G

1 paper

NM_003628.6

p.Q44E

c.130C>G