Varaico: Literature-Extracted Genetic Variants

EVPL

232 papers

RefSeq Summary

This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on c...

Pfam Domains

Spectrin_1st_PEPLaa 46–138UCSCPeriplakin spectrin-like repeat

SH3_10aa 404–468UCSCSH3 domain

SR_desmoplakin_3aa 732–895UCSCDesmoplakin-like, Spectrin domain

Plectin_PPLaa 988–1152UCSCPeriplakin-like, plectin repeat

Plectin_PPLaa 1149–1225UCSCPeriplakin-like, plectin repeat

Plectin_PPLaa 1226–1390UCSCPeriplakin-like, plectin repeat

Gene Aliases

HGNC Name

envoplakin

HGNC Alias Symbol

EVPK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001988.4

p.A1828T

c.5482G>A

Surrounding Variants

1 paper

NM_001988.4

p.Y1831F

c.5492A>T

1 paper

NM_001988.4

p.Y1831C

c.5492A>G

1 paper

NM_001988.4

p.D1832Y

c.5494G>T

1 paper

NM_001988.4

p.L1818L

c.5454C>T

1 paper

NM_001988.4

p.S1840S

c.5520C>T

1 paper

NM_001988.4

p.P1814S

c.5440C>T

1 paper

NM_001988.4

p.S1813F

c.5438C>T

1 paper

NM_001988.4

p.S1813C

c.5438C>G

1 paper

NM_001988.4

p.K1847E

c.5539A>G

1 paper

NM_001988.4

p.I1792I

c.5376C>T

1 paper

NM_001988.4

p.A1863insFs

c.5588_5589insG

1 paper

NM_001988.4

p.A1781P

c.5341G>C