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.R1657Q

c.4970G>A

Surrounding Variants

2 papers

NM_001988.4

p.R1660Q

c.4979G>A

1 paper

NM_001988.4

p.Q1651*

c.4951C>T

1 paper

NM_001988.4

p.S1667C

c.4999A>T

1 paper

NM_001988.4

p.R1668L

c.5003G>T

1 paper

NM_001988.4

p.E1669*

c.5005G>T

1 paper

NM_001988.4

p.S1639L

c.4916C>T

1 paper

NM_001988.4

p.Q1629*

c.4885C>T

1 paper

NM_001988.4

p.T1624M

c.4871C>T

1 paper

NM_001988.4

p.E1692*

c.5074G>T

1 paper

NM_001988.4

p.E1616*

c.4846G>T

1 paper

NM_001988.4

p.S1698S

c.5094C>T

1 paper

NM_001988.4

p.P1699P

c.5097A>C