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

2 papers

NM_001988.4

p.L1405R

c.4214T>G

Surrounding Variants

1 paper

NM_001988.4

p.L1405I

c.4213C>A

1 paper

NM_001988.4

p.V1416M

c.4246G>A

1 paper

NM_001988.4

p.V1377D

c.4130T>A

1 paper

NM_001988.4

p.R1437M

c.4310G>T

1 paper

NM_001988.4

p.E1367K

c.4099G>A

1 paper

NM_001988.4

p.R1452Q

c.4355G>A

2 papers

NM_001988.4

p.P1453L

c.4358C>T

1 paper

NM_001988.4

p.A1340V

c.4019C>T

1 paper

NM_001988.4

p.R1334G

c.4000C>G

1 paper

NM_001988.4

p.T1478M

c.4433C>T

1 paper

NM_001988.4

p.D1484N

c.4450G>A

1 paper

NM_001988.4

p.R1319H

c.3956G>A