Varaico: Literature-Extracted Genetic Variants

ENOX2

34 papers

RefSeq Summary

This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidati...

Pfam Domains

RRM_1aa 130–189UCSCRNA recognition motif

ENOX1aa 409–507UCSCENOX1-like domain

HTH_ENOX1aa 530–598UCSCENOX1-like, C-terminal helix-turn-helix domain

Gene Aliases

HGNC Name

ecto-NOX disulfide-thiol exchanger 2

HGNC Previous Symbol

COVA1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

2 papers

NM_006375.4

p.D33Splc

c.98-1G>C

2 papers

NM_006375.4

p.Y144*

c.432C>G

2 papers

NM_006375.4

p.D361H

c.1081G>C

1 paper

NM_182314.3

p.T71I

c.212C>T

1 paper

NM_006375.4

p.K75N

c.225A>T

1 paper

NM_006375.4

p.K75N

c.225A>C

1 paper

NM_006375.4

p.Q113*

c.337C>T

1 paper

NM_006375.4

p.G169fs

c.505_506fs

1 paper

NM_006375.4

p.G169delFs

c.506delC

1 paper

NM_006375.4

p.R179R

c.535C>A

1 paper

NM_006375.4

p.R190H

c.569G>A

1 paper

NM_006375.4

p.A193S

c.577G>T