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.L1480L

c.4440C>T

Surrounding Variants

1 paper

NM_002705.5

p.E1491Q

c.4471G>C

1 paper

NM_002705.5

p.L1466P

c.4397T>C

1 paper

NM_002705.5

p.D1511N

c.4531G>A

1 paper

NM_002705.5

p.Q1450*

c.4348C>T

1 paper

NM_002705.5

p.R1438C

c.4312C>T

1 paper

NM_002705.5

p.V1535V

c.4605C>T

1 paper

NM_002705.5

p.A1542T

c.4624G>A

1 paper

NM_002705.5

p.R1418H

c.4253G>A

1 paper

NM_002705.5

p.E1548_K1556insFs

c.4643_4667dup25

2 papers

NM_002705.5

p.E1557Q

c.4669G>C

1 paper

NM_002705.5

p.K1567_Q1569del3

c.4699_4706del9

1 paper

NM_002705.5

p.R1391W

c.4171C>T