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

2 papers

NM_002705.5

p.E1557Q

c.4669G>C

Surrounding Variants

1 paper

NM_002705.5

p.E1548_K1556insFs

c.4643_4667dup25

1 paper

NM_002705.5

p.K1567_Q1569del3

c.4699_4706del9

1 paper

NM_002705.5

p.A1542T

c.4624G>A

3 papers

NM_002705.5

p.Q1573E

c.4717C>G

2 papers

NM_002705.5

p.L1575Q

c.4724T>A

1 paper

NM_002705.5

p.V1535V

c.4605C>T

1 paper

NM_002705.5

p.R1594Q

c.4781G>A

2 papers

NM_002705.5

p.R1597W

c.4789C>T

1 paper

NM_002705.5

p.D1511N

c.4531G>A

1 paper

NM_002705.5

p.S1614F

c.4841C>T

1 paper

NM_002705.5

p.E1491Q

c.4471G>C

1 paper

NM_002705.5

p.L1480L

c.4440C>T