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.R1272H

c.3815G>A

Surrounding Variants

1 paper

NM_001988.4

p.R1272C

c.3814C>T

1 paper

NM_001988.4

p.A1275T

c.3823G>A

1 paper

NM_001988.4

p.V1281I

c.3841G>A

1 paper

NM_001988.4

p.V1258V

c.3774G>A

1 paper

NM_001988.4

p.I1292I

c.3876C>T

1 paper

NM_001988.4

p.L1294L

c.3880C>T

1 paper

NM_001988.4

p.R1303C

c.3907C>T

1 paper

NM_001988.4

p.P1236L

c.3707C>T

1 paper

NM_001988.4

p.R1319H

c.3956G>A

1 paper

NM_001988.4

p.R1334G

c.4000C>G

1 paper

NM_001988.4

p.E1209K

c.3625G>A

1 paper

NM_001988.4

p.A1340V

c.4019C>T