Varaico: Literature-Extracted Genetic Variants

Gene:NOXA1
Variant:p.W365*

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
1 paper
NM_001256067.2
p.W365*
c.1094G>A
Surrounding Variants
1 paper
NM_001256067.2
p.R393_G394Splc
c.1180-2A>G
2 papers
NM_001256067.2
p.R398G
c.1192C>G
1 paper
NM_001256067.2
p.A344S
c.1030G>T
1 paper
NM_001256067.2
p.L401P
c.1202T>C
1 paper
NM_001256067.2
p.R421Q
c.1262G>A
1 paper
NM_001256067.2
p.Q422delFs
c.1265_1266delAG
1 paper
NM_001256067.2
p.C320R
c.958T>C
1 paper
NM_001256067.2
p.V432Splc
c.1294+1G>A
2 papers
NM_001256067.2
p.W436R
c.1306T>A
2 papers
NM_001256067.2
p.W436R
c.1306T>C
1 paper
NM_001256067.2
p.G301S
c.901G>A
1 paper
NM_006647.2
p.R466W
c.1396C>T
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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."