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.D102E

c.306C>G

Surrounding Variants

2 papers

NM_001988.4

p.L99P

c.296T>C

1 paper

NM_001988.4

p.L99Q

c.296T>A

1 paper

NM_001988.4

p.A90D

c.269C>A

1 paper

NM_001988.4

p.E89D

c.267G>T

1 paper

NM_001988.4

p.E89D

c.267G>C

1 paper

NM_001988.4

p.K117M

c.350A>T

1 paper

NM_001988.4

p.S86R

c.258C>A

3 papers

NM_001988.4

p.R85H

c.254G>A

1 paper

NM_001988.4

p.E72K

c.214G>A

1 paper

NM_001988.4

p.R125W

c.373C>T

3 papers

NM_001988.4

p.R134C

c.400C>T

1 paper

NM_001988.4

p.R134H

c.401G>A