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.Q305*

c.913C>T

Surrounding Variants

1 paper

NM_001988.4

p.P299A

c.895C>G

1 paper

NM_001988.4

p.E287D

c.861G>T

1 paper

NM_001988.4

p.L276M

c.826C>A

1 paper

NM_001988.4

p.Q305_A306Splc

c.916-9C>G

2 papers

NM_001988.4

p.C322C

c.966T>C

1 paper

NM_001988.4

p.E269_H270Splc

c.807+20G>C

1 paper

NM_001988.4

p.Y268S

c.803A>C

7 papers

NM_001988.4

p.R336S

c.1006C>A

1 paper

NM_001988.4

p.R336insFs

c.1006_1007ins11

1 paper

NM_001988.4

p.V264E

c.791T>A

1 paper

NM_001988.4

p.G263C

c.787G>T

1 paper

NM_001988.4

p.D260G

c.779A>G