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.G1905S

c.5713G>A

Surrounding Variants

1 paper

NM_001988.4

p.E1907K

c.5719G>A

1 paper

NM_001988.4

p.K1901E

c.5701A>G

1 paper

NM_001988.4

p.S1916L

c.5747C>T

2 papers

NM_001988.4

p.E1919K

c.5755G>A

1 paper

NM_001988.4

p.I1888M

c.5664C>G

1 paper

NM_001988.4

p.R1876C

c.5626C>T

1 paper

NM_001988.4

p.Q1936*

c.5806C>T

1 paper

NM_001988.4

p.L1940delFs

c.5818delG

1 paper

NM_001988.4

p.A1863insFs

c.5588_5589insG

1 paper

NM_001988.4

p.R1952H

c.5855G>A

1 paper

NM_001988.4

p.Q1956delFs

c.5866delG

1 paper

NM_001988.4

p.G1962R

c.5884G>C