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.V997I

c.2989G>A

Surrounding Variants

1 paper

NM_002705.5

p.R999L

c.2996G>T

1 paper

NM_002705.5

p.D1003H

c.3007G>C

1 paper

NM_002705.5

p.E991K

c.2971G>A

1 paper

NM_002705.5

p.Q990*

c.2968C>T

1 paper

NM_002705.5

p.A1007V

c.3020C>T

2 papers

NM_002705.5

p.A1026V

c.3077C>T

1 paper

NM_002705.5

p.N964D

c.2890A>G

1 paper

NM_002705.5

p.E1030E

c.3090G>A

1 paper

NM_002705.5

p.R1047W

c.3139C>T

1 paper

NM_002705.5

p.V945M

c.2833G>A

2 papers

NM_002705.5

p.P944S

c.2830C>T

1 paper

NM_002705.5

p.K1051delins

c.3151_3152delinsGT