Varaico: Literature-Extracted Genetic Variants

PPL

187 papers

RefSeq Summary

The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its...

Pfam Domains

Spectrin_1st_PEPLaa 34–126UCSCPeriplakin spectrin-like repeat

SH3_10aa 390–453UCSCSH3 domain

SR_desmoplakin_3aa 690–855UCSCDesmoplakin-like, Spectrin domain

Plectin_PPLaa 887–1032UCSCPeriplakin-like, plectin repeat

Plectin_PPLaa 1006–1168UCSCPeriplakin-like, plectin repeat

Plectin_PPLaa 1164–1266UCSCPeriplakin-like, plectin repeat

Gene Aliases

HGNC Name

periplakin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002705.5

p.K184*

c.550A>T

Surrounding Variants

1 paper

NM_002705.5

p.I178I

c.534C>T

1 paper

NM_002705.5

p.K188_E189Splc

c.564+8G>A

1 paper

NM_002705.5

p.N169D

c.505A>G

1 paper

NM_002705.5

p.D162N

c.484G>A

1 paper

NM_002705.5

p.P159T

c.475C>A

1 paper

NM_002705.5

p.D147E

c.441C>G

1 paper

NM_002705.5

p.S192N

c.575G>A

1 paper

NM_002705.5

p.L202_A203Splc

c.606+2T>C

1 paper

NM_002705.5

p.A139V

c.416C>T

1 paper

NM_002705.5

p.I124V

c.370A>G

2 papers

NM_002705.5

p.K120Q

c.358A>C

1 paper

NM_002705.5

p.R108C

c.322C>T