Varaico: Literature-Extracted Genetic Variants

ENOX1

43 papers

RefSeq Summary

The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchan...

Pfam Domains

RRM_1aa 144–204UCSCRNA recognition motif

ENOX1aa 424–523UCSCENOX1-like domain

HTH_ENOX1aa 563–631UCSCENOX1-like, C-terminal helix-turn-helix domain

Gene Aliases

HGNC Name

ecto-NOX disulfide-thiol exchanger 1

HGNC Alias Symbols

FLJ10094; PIG38; CNOX; cCNOX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001347969.2

p.A300E

c.899C>A

Surrounding Variants

1 paper

NM_001347969.2

p.Y304H

c.910T>C

1 paper

NM_001347969.2

p.R292*

c.874C>T

1 paper

NM_001347969.2

p.V314I

c.940G>A

1 paper

NM_001347969.2

p.R316R

c.948G>T