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.E872K

c.2614G>A

Surrounding Variants

1 paper

NM_002705.5

p.P871R

c.2612C>G

1 paper

NM_002705.5

p.E878Q

c.2632G>C

1 paper

NM_002705.5

p.L880L

c.2640G>A

1 paper

NM_002705.5

p.D886H

c.2656G>C

1 paper

NM_002705.5

p.E891Q

c.2671G>C

1 paper

NM_002705.5

p.E902G

c.2705A>G

1 paper

NM_002705.5

p.Q908H

c.2724G>T

1 paper

NM_002705.5

p.Q908H

c.2724G>C

1 paper

NM_002705.5

p.S915I

c.2744G>T

1 paper

NM_002705.5

p.T922I

c.2765C>T

2 papers

NM_002705.5

p.G927R

c.2779G>C

2 papers

NM_002705.5

p.G927R

c.2779G>A