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

2 papers

NM_003628.6

p.I627V

c.1879A>G

Surrounding Variants

1 paper

NM_003628.6

p.I616V

c.1846A>G

5 papers

NM_003628.6

p.D604G

c.1811A>G

1 paper

NM_003628.6

p.V598I

c.1792G>A

2 papers

NM_003628.6

p.K588R

c.1763A>G

1 paper

NM_003628.6

p.R526H

c.1577G>A

1 paper

NM_003628.6

p.E522K

c.1564G>A

1 paper

NM_003628.6

p.R521G

c.1561A>G

1 paper

NM_003628.6

p.K518M

c.1553A>T

1 paper

NM_003628.6

p.T456delFs

c.1368delA