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.K373R

c.1118A>G

Surrounding Variants

1 paper

NM_002705.5

p.E375D

c.1125G>T

1 paper

NM_002705.5

p.E368del1

c.1102_1103delCTC

1 paper

NM_002705.5

p.Q367E

c.1099C>G

1 paper

NM_002705.5

p.G380R

c.1138G>C

1 paper

NM_002705.5

p.G380R

c.1138G>A

1 paper

NM_002705.5

p.Q382R

c.1145A>G

1 paper

NM_002705.5

p.P390S

c.1168C>T

1 paper

NM_002705.5

p.G412delFs

c.1234delC

1 paper

NM_002705.5

p.L364_D365insFs

c.1092_1093insT

1 paper

NM_002705.5

p.L360V

c.1078C>G

1 paper

NM_002705.5

p.Q356delFs

c.1067_1068delCT

1 paper

NM_002705.5

p.S341S

c.1023G>A