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.Y1139N

c.3415T>A

Surrounding Variants

1 paper

NM_003628.6

p.D1127V

c.3380A>T

1 paper

NM_003628.6

p.S1096G

c.3286A>G

1 paper

NM_003628.6

p.P1092S

c.3274C>T

1 paper

NM_003628.6

p.Y1084F

c.3251A>T

1 paper

NM_003628.6

p.K1081K

c.3243A>G

2 papers

NM_003628.6

p.A1078G

c.3233C>G

1 paper

NM_003628.6

p.K1003_D1004Splc

c.3009+1G>A

1 paper

NM_003628.6

p.R998Q

c.2993G>A

1 paper

NM_003628.6

p.L997F

c.2989C>T

1 paper

NM_003628.6

p.W992R

c.2974T>C

2 papers

NM_003628.6

p.T990I

c.2969C>T