Varaico: Literature-Extracted Genetic Variants

Gene:NOXO1
Variant:p.Q354*

NOXO1

28 papers

RefSeq Summary

This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding m...

Pfam Domains

SH3_1aa 244–288UCSCSH3 domain

Gene Aliases

HGNC Name

NADPH oxidase organizer 1

HGNC Alias Symbols

P41NOXA; P41NOXB; P41NOXC; SH3PXD5; SNX28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172167.3
p.Q354*
c.1060C>T
Surrounding Variants
1 paper
NM_172167.3
p.R349P
c.1046G>C
1 paper
NM_172167.3
p.P365S
c.1093C>T
1 paper
NM_172167.3
p.S331A
c.991T>G
1 paper
NM_172167.3
p.P327A
c.979C>G
1 paper
NM_172167.3
p.P324L
c.971C>T
1 paper
NM_172167.3
p.E309K
c.925G>A
1 paper
NM_172167.3
p.A293P
c.877G>C
1 paper
NM_172167.3
p.P282R
c.845C>G
1 paper
NM_172167.3
p.W269R
c.805T>C
1 paper
NM_172167.3
p.W269R
c.805T>A
1 paper
NM_172167.3
p.V261V
c.783G>A
1 paper
NM_172167.3
p.Y243F
c.728A>T
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