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.R1655W

c.4963C>T

Surrounding Variants

4 papers

NM_002705.5

p.R1656C

c.4966C>T

1 paper

NM_002705.5

p.K1646R

c.4937A>G

1 paper

NM_002705.5

p.V1643A

c.4928T>C

1 paper

NM_002705.5

p.S1642S

c.4926C>T

1 paper

NM_002705.5

p.E1668D

c.5004G>T

1 paper

NM_002705.5

p.E1668D

c.5004G>C

1 paper

NM_002705.5

p.E1635K

c.4903G>A

1 paper

NM_002705.5

p.V1686M

c.5056G>A

1 paper

NM_002705.5

p.K1687E

c.5059A>G

1 paper

NM_002705.5

p.S1614F

c.4841C>T

1 paper

NM_002705.5

p.E1697K

c.5089G>A

2 papers

NM_002705.5

p.R1597W

c.4789C>T