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.Q1095*

c.3283C>T

Surrounding Variants

1 paper

NM_002705.5

p.S1092_F1093insT

c.3274_3278ins3

1 paper

NM_002705.5

p.E1109K

c.3325G>A

1 paper

NM_002705.5

p.R1079H

c.3236G>A

1 paper

NM_002705.5

p.D1076A

c.3227A>C

1 paper

NM_002705.5

p.E1067_A1068del2

c.3199_3203del6

1 paper

NM_002705.5

p.R1128K

c.3383G>A

2 papers

NM_002705.5

p.V1130V

c.3390C>T

2 papers

NM_002705.5

p.D1132N

c.3394G>A

1 paper

NM_002705.5

p.Q1136H

c.3408A>T

1 paper

NM_002705.5

p.Q1136H

c.3408A>C

1 paper

NM_002705.5

p.K1051delFs

c.3151_3152delTT

1 paper

NM_002705.5

p.K1051delins

c.3151_3152delinsGT