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.T685I

c.2054C>T

Surrounding Variants

1 paper

NM_002705.5

p.S684G

c.2050A>G

1 paper

NM_002705.5

p.S683P

c.2047T>C

1 paper

NM_002705.5

p.R689H

c.2066G>A

1 paper

NM_002705.5

p.D696A

c.2087A>C

1 paper

NM_002705.5

p.E671D

c.2013G>T

1 paper

NM_002705.5

p.E671D

c.2013G>C

1 paper

NM_002705.5

p.Q665R

c.1994A>G

1 paper

NM_002705.5

p.R710H

c.2129G>A

3 papers

NM_002705.5

p.R720H

c.2159G>A

1 paper

NM_002705.5

p.A656_A657Splc

c.1969-80C>T

1 paper

NM_002705.5

p.E733V

c.2198A>T

1 paper

NM_002705.5

p.R737H

c.2210G>A