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

1–12 of 255 variants

4 papers

NM_002705.5

p.R589Q

c.1766G>A

4 papers

NM_002705.5

p.R1656C

c.4966C>T

3 papers

NM_002705.5

p.L335M

c.1003C>A

3 papers

NM_002705.5

p.R720H

c.2159G>A

3 papers

NM_002705.5

p.Q1573E

c.4717C>G

2 papers

NM_002705.5

p.K120Q

c.358A>C

2 papers

NM_002705.5

p.R208W

c.622C>T

2 papers

NM_002705.5

p.S214L

c.641C>T

2 papers

NM_002705.5

p.E284D

c.852G>T

2 papers

NM_002705.5

p.E284D

c.852G>C

2 papers

NM_002705.5

p.P286L

c.857C>T

2 papers

NM_002705.5

p.K317N

c.951G>T