Varaico: Literature-Extracted Genetic Variants

Gene:ENOX1
Variant:p.G5S

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
1 paper
NM_001347969.2
p.G5S
c.13G>A
Surrounding Variants
1 paper
NM_001347969.2
p.Q12R
c.35A>G
1 paper
NM_001347969.2
p.Q19H
c.57G>T
1 paper
NM_001347969.2
p.Q19H
c.57G>C
1 paper
NM_001347969.2
p.P45H
c.134C>A
1 paper
NM_001347969.2
p.L55L
c.163C>T
1 paper
NM_001347969.2
p.V60I
c.178G>A
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