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

1–12 of 38 variants

2 papers

NM_001347969.2

p.R242W

c.724C>T

2 papers

NM_001347969.2

p.A300E

c.899C>A

2 papers

NM_001347969.2

p.K360N

c.1080A>T

2 papers

NM_001347969.2

p.K360N

c.1080A>C

2 papers

NM_001347969.2

p.R384Q

c.1151G>A

1 paper

NM_001347969.2

p.G5S

c.13G>A

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