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

2 papers

NM_002705.5

p.Q1287H

c.3861G>C

Surrounding Variants

2 papers

NM_002705.5

p.Q1287H

c.3861G>T

1 paper

NM_002705.5

p.E1290V

c.3869A>T

1 paper

NM_002705.5

p.Q1297K

c.3889C>A

1 paper

NM_002705.5

p.Q1299E

c.3895C>G

1 paper

NM_002705.5

p.Q1303*

c.3907C>T

1 paper

NM_002705.5

p.Y1270*

c.3810C>G

1 paper

NM_002705.5

p.Y1270*

c.3810C>A

1 paper

NM_002705.5

p.K1314*

c.3940A>T

1 paper

NM_002705.5

p.K1314M

c.3941A>T

1 paper

NM_002705.5

p.L1315P

c.3944T>C

1 paper

NM_002705.5

p.E1254K

c.3760G>A

1 paper

NM_002705.5

p.D1324fs

c.3970_3971fs