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.V358L

c.1072G>C

Surrounding Variants

1 paper

NM_003628.6

p.D360Y

c.1078G>T

1 paper

NM_003628.6

p.P352T

c.1054C>A

1 paper

NM_003628.6

p.V346I

c.1036G>A

1 paper

NM_003628.6

p.T344I

c.1031C>T

1 paper

NM_003628.6

p.M343I

c.1029G>A

1 paper

NM_003628.6

p.M343I

c.1029G>C

1 paper

NM_003628.6

p.M343I

c.1029G>T

1 paper

NM_003628.6

p.T319M

c.956C>T

1 paper

NM_003628.6

p.L318Q

c.953T>A

1 paper

NM_003628.6

p.V312V

c.936G>C

1 paper

NM_003628.6

p.T296delFs

c.888delC

1 paper

NM_003628.6

p.R294Q

c.881G>A