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.Y168C

c.503A>G

Surrounding Variants

1 paper

NM_001988.4

p.G169R

c.505G>C

1 paper

NM_001988.4

p.G169R

c.505G>A

1 paper

NM_001988.4

p.A205T

c.613G>A

1 paper

NM_001988.4

p.R221C

c.661C>T

1 paper

NM_001988.4

p.L225P

c.674T>C

1 paper

NM_001988.4

p.A241V

c.722C>T

1 paper

NM_001988.4

p.E244K

c.730G>A

11 papers

NM_001988.4

p.Q252H

c.756G>T

11 papers

NM_001988.4

p.Q252H

c.756G>C

1 paper

NM_001988.4

p.D260N

c.778G>A

1 paper

NM_001988.4

p.D260G

c.779A>G

1 paper

NM_001988.4

p.G263C

c.787G>T