Varaico: Literature-Extracted Genetic Variants

Gene:NOXA1
Variant:p.H187delFs

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.H187delFs
c.559delC
Surrounding Variants
2 papers
NM_001256067.2
p.H187fs
c.559_560fs
2 papers
NM_001256067.2
p.R176W
c.526C>T
1 paper
NM_001256067.2
p.A142V
c.425C>T
1 paper
NM_001256067.2
p.A142P
c.424G>C
2 papers
NM_001256067.2
p.L137I
c.409C>A
1 paper
NM_001256067.2
p.L135V
c.403C>G
1 paper
NM_001256067.2
p.T111T
c.333G>A
1 paper
NM_001256067.2
p.L99R
c.296T>G
1 paper
NM_001256067.2
p.A98S
c.292G>T
1 paper
NM_001256067.2
p.V205A
c.614T>C
1 paper
NM_001256067.2
p.P211L
c.632C>T
1 paper
NM_001256067.2
p.G217C
c.649G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."