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

1–12 of 214 variants

11 papers

NM_001988.4

p.Q252H

c.756G>T

11 papers

NM_001988.4

p.Q252H

c.756G>C

7 papers

NM_001988.4

p.R336S

c.1006C>A

5 papers

NM_001988.4

p.E1162K

c.3484G>A

3 papers

NM_001988.4

p.R85H

c.254G>A

3 papers

NM_001988.4

p.R134C

c.400C>T

3 papers

NM_001988.4

p.Y168C

c.503A>G

3 papers

NM_001988.4

p.C758S

c.2272T>A

3 papers

NM_001988.4

p.C758S

c.2273G>C

3 papers

NM_001988.4

p.V1196I

c.3586G>A

2 papers

NM_001988.4

p.R33Q

c.98G>A

2 papers

NM_001988.4

p.L99P

c.296T>C