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.T1168M

c.3503C>T

Surrounding Variants

5 papers

NM_001988.4

p.E1162K

c.3484G>A

1 paper

NM_001988.4

p.V1182M

c.3544G>A

2 papers

NM_001988.4

p.E1184K

c.3550G>A

3 papers

NM_001988.4

p.V1196I

c.3586G>A

1 paper

NM_001988.4

p.E1209K

c.3625G>A

2 papers

NM_001988.4

p.I1127M

c.3381C>G

1 paper

NM_001988.4

p.E1101K

c.3301G>A

1 paper

NM_001988.4

p.P1236L

c.3707C>T

1 paper

NM_001988.4

p.V1258V

c.3774G>A

1 paper

NM_001988.4

p.E1067_V1068del2

c.3199_3203del6

1 paper

NM_001988.4

p.R1272C

c.3814C>T

1 paper

NM_001988.4

p.R1272H

c.3815G>A