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

3 papers

NM_001988.4

p.C758S

c.2273G>C

Surrounding Variants

3 papers

NM_001988.4

p.C758S

c.2272T>A

1 paper

NM_001988.4

p.D747N

c.2239G>A

1 paper

NM_001988.4

p.P770L

c.2309C>T

1 paper

NM_001988.4

p.R741G

c.2221C>G

1 paper

NM_001988.4

p.G779C

c.2335G>T

1 paper

NM_001988.4

p.A789V

c.2366C>T

1 paper

NM_001988.4

p.R741R

c.2221C>A

1 paper

NM_001988.4

p.D736E

c.2208C>G

1 paper

NM_001988.4

p.D736E

c.2208C>A

1 paper

NM_001988.4

p.R730R

c.2190C>G

1 paper

NM_001988.4

p.R730H

c.2189G>A

1 paper

NM_001988.4

p.Q723K

c.2167C>A