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.M102K

c.305T>A

Surrounding Variants

1 paper

NM_002705.5

p.K96T

c.287A>C

1 paper

NM_002705.5

p.M95delFs

c.284delA

1 paper

NM_002705.5

p.A90D

c.269C>A

1 paper

NM_002705.5

p.D88G

c.263A>G

1 paper

NM_002705.5

p.V75M

c.223G>A

1 paper

NM_002705.5

p.D69V

c.206A>T

1 paper

NM_002705.5

p.R58W

c.172C>T

1 paper

NM_002705.5

p.R108C

c.322C>T

2 papers

NM_002705.5

p.K120Q

c.358A>C

1 paper

NM_002705.5

p.I124V

c.370A>G

1 paper

NM_002705.5

p.A139V

c.416C>T

1 paper

NM_002705.5

p.D147E

c.441C>G