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.Q938*

c.2812C>T

Surrounding Variants

1 paper

NM_001988.4

p.A929V

c.2786C>T

2 papers

NM_001988.4

p.Q909*

c.2725C>T

1 paper

NM_001320747.2

p.L912F

c.2734C>T

1 paper

NM_001988.4

p.K1006_R1007ins11

c.3016_3020ins33

1 paper

NM_001988.4

p.P1026R

c.3077C>G

2 papers

NM_001988.4

p.A1033T

c.3097G>A

1 paper

NM_001988.4

p.E1064K

c.3190G>A

1 paper

NM_001988.4

p.E1067_V1068del2

c.3199_3203del6

1 paper

NM_001988.4

p.E1101K

c.3301G>A

2 papers

NM_001988.4

p.I1127M

c.3381C>G

5 papers

NM_001988.4

p.E1162K

c.3484G>A

1 paper

NM_001988.4

p.T1168M

c.3503C>T