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.S566R

c.1696A>C

Surrounding Variants

1 paper

NM_002705.5

p.S566R

c.1698C>G

1 paper

NM_002705.5

p.S566R

c.1698C>A

1 paper

NM_002705.5

p.R565W

c.1693C>T

1 paper

NM_002705.5

p.T567A

c.1699A>G

1 paper

NM_002705.5

p.T567M

c.1700C>T

1 paper

NM_002705.5

p.E569delFs

c.1706delT

1 paper

NM_002705.5

p.I574T

c.1721T>C

4 papers

NM_002705.5

p.R589Q

c.1766G>A

1 paper

NM_002705.5

p.T593S

c.1777A>T

1 paper

NM_002705.5

p.T593S

c.1778C>G

1 paper

NM_002705.5

p.H599R

c.1796A>G

1 paper

NM_002705.5

p.L600P

c.1799T>C