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.Q216R

c.647A>G

Surrounding Variants

2 papers

NM_002705.5

p.S214L

c.641C>T

1 paper

NM_002705.5

p.R221H

c.662G>A

1 paper

NM_002705.5

p.Q209P

c.626A>C

1 paper

NM_002705.5

p.R208Q

c.623G>A

2 papers

NM_002705.5

p.R208W

c.622C>T

1 paper

NM_002705.5

p.E225G

c.674A>G

1 paper

NM_002705.5

p.A203delFs

c.609delT

1 paper

NM_002705.5

p.D243E

c.729C>A

1 paper

NM_002705.5

p.R252Q

c.755G>A

1 paper

NM_002705.5

p.R253H

c.758G>A

1 paper

NM_002705.5

p.R269*

c.805A>T

1 paper

NM_002705.5

p.S275G

c.823A>G