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.K360N

c.1080A>C

Surrounding Variants

2 papers

NM_001347969.2

p.K360N

c.1080A>T

1 paper

NM_001347969.2

p.V350A

c.1049T>C

2 papers

NM_001347969.2

p.R384Q

c.1151G>A

1 paper

NM_001347969.2

p.Q387L

c.1160A>T

1 paper

NM_001347969.2

p.R395C

c.1183C>T

1 paper

NM_001347969.2

p.R396S

c.1186C>A

1 paper

NM_001347969.2

p.D405G

c.1214A>G

1 paper

NM_001347969.2

p.R416K

c.1247G>A

1 paper

NM_001347969.2

p.S420_A421ins2

c.1260_1261ins6