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.V212I

c.634G>A

Surrounding Variants

1 paper

NM_003628.6

p.R211K

c.632G>A

1 paper

NM_003628.6

p.S227T

c.680G>C

1 paper

NM_003628.6

p.G242A

c.725G>C

1 paper

NM_003628.6

p.G246A

c.737G>C

1 paper

NM_003628.6

p.S247F

c.740C>T

1 paper

NM_003628.6

p.P248L

c.743C>T

1 paper

NM_003628.6

p.A268A

c.804T>G

1 paper

NM_003628.6

p.R270W

c.808C>T

1 paper

NM_003628.6

p.P279P

c.837C>A

1 paper

NM_003628.6

p.R294W

c.880C>T

1 paper

NM_003628.6

p.R294Q

c.881G>A

1 paper

NM_003628.6

p.T296delFs

c.888delC