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.S837delFs

c.2509delA

Surrounding Variants

1 paper

NM_003628.6

p.L834V

c.2500C>G

1 paper

NM_003628.6

p.Y830_L831insFs

c.2490_2491insT

1 paper

NM_003628.6

p.W822C

c.2466G>C

1 paper

NM_003628.6

p.W822C

c.2466G>T

1 paper

NM_003628.6

p.S812S

c.2436G>A

1 paper

NM_003628.6

p.G810R

c.2428G>A

1 paper

NM_003628.6

p.G810R

c.2428G>C

4 papers

NM_003628.6

p.R795K

c.2384G>A

1 paper

NM_003628.6

p.K790*

c.2368A>T

1 paper

NM_003628.6

p.G787E

c.2360G>A

1 paper

NM_003628.6

p.S781C

c.2342C>G

1 paper

NM_003628.6

p.E775K

c.2323G>A