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.D1736H

c.5206G>C

Surrounding Variants

1 paper

NM_002705.5

p.R1737H

c.5210G>A

1 paper

NM_002705.5

p.Q1734R

c.5201A>G

1 paper

NM_002705.5

p.K1741E

c.5221A>G

1 paper

NM_002705.5

p.E1723Q

c.5167G>C

1 paper

NM_002705.5

p.S1715F

c.5144C>T

1 paper

NM_002705.5

p.K1714E

c.5140A>G

1 paper

NM_002705.5

p.R1713M

c.5138G>T

1 paper

NM_002705.5

p.E1697K

c.5089G>A

1 paper

NM_002705.5

p.K1687E

c.5059A>G

1 paper

NM_002705.5

p.V1686M

c.5056G>A

1 paper

NM_002705.5

p.E1668D

c.5004G>T

1 paper

NM_002705.5

p.E1668D

c.5004G>C