Varaico: Literature-Extracted Genetic Variants

Gene:NOXA1
Variant:p.E252_T253delFs

NOXA1

47 papers

RefSeq Summary

This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains...

Pfam Domains

PB1aa 315–395UCSCPB1 domain
PB1aa 315–395UCSCPB1 domain
SH3_1aa 405–450UCSCSH3 domain

Gene Aliases

HGNC Name

NADPH oxidase activator 1

HGNC Previous Symbol

SDCCAG31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001256067.2
p.E252_T253delFs
c.756_757delGA
Surrounding Variants
1 paper
NM_001256067.2
p.A251E
c.752C>A
1 paper
NM_001256067.2
p.T261A
c.781A>G
1 paper
NM_001256067.2
p.S239A
c.715T>G
1 paper
NM_001256067.2
p.Q222K
c.664C>A
1 paper
NM_001256067.2
p.G217C
c.649G>T
1 paper
NM_001256067.2
p.P211L
c.632C>T
1 paper
NM_001256067.2
p.V205A
c.614T>C
1 paper
NM_001256067.2
p.Q274*
c.820C>T
1 paper
NM_001256067.2
p.K277E
c.829A>G
1 paper
NM_001256067.2
p.Q278K
c.832C>A
1 paper
NM_001256067.2
p.S282A
c.844T>G
1 paper
NM_001256067.2
p.G290insFs
c.870dupG
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