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.R1222Q

c.3665G>A

Surrounding Variants

1 paper

NM_002705.5

p.R1210Q

c.3629G>A

1 paper

NM_002705.5

p.M1244I

c.3732G>T

1 paper

NM_002705.5

p.M1244I

c.3732G>C

1 paper

NM_002705.5

p.M1244I

c.3732G>A

1 paper

NM_002705.5

p.E1254K

c.3760G>A

1 paper

NM_002705.5

p.E1185*

c.3553G>T

1 paper

NM_002705.5

p.R1179W

c.3535C>T

2 papers

NM_002705.5

p.I1177I

c.3531C>T

1 paper

NM_002705.5

p.Y1270*

c.3810C>G

1 paper

NM_002705.5

p.Y1270*

c.3810C>A

1 paper

NM_002705.5

p.N1165T

c.3494A>C

1 paper

NM_002705.5

p.E1163K

c.3487G>A