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

1 paper

NM_001347969.2

p.L149F

c.447A>T

Surrounding Variants

1 paper

NM_001347969.2

p.L149F

c.447A>C

1 paper

NM_001347969.2

p.G166S

c.496G>A

1 paper

NM_001347969.2

p.R172Q

c.515G>A

1 paper

NM_001347969.2

p.A192D

c.575C>A

1 paper

NM_001347969.2

p.R201L

c.602G>T

1 paper

NM_001347969.2

p.L202*

c.605T>G

1 paper

NM_001347969.2

p.L202*

c.605T>A

1 paper

NM_001347969.2

p.L202delFs

c.605delA

1 paper

NM_001347969.2

p.S205I

c.614G>T

1 paper

NM_001347969.2

p.D207fs

c.619_620fs

2 papers

NM_001347969.2

p.R242W

c.724C>T