Varaico: Literature-Extracted Genetic Variants

Gene:NOXO1
Variant:p.S27A

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.S27A
c.79T>G
Surrounding Variants
1 paper
NM_172167.3
p.W30*
c.89G>A
1 paper
NM_172167.3
p.W30*
c.90G>A
1 paper
NM_172167.3
p.S31A
c.91T>G
2 papers
NM_172167.3
p.R39H
c.116G>A
1 paper
NM_172167.3
p.L48L
c.144C>G
1 paper
NM_172167.3
p.G12V
c.35G>T
1 paper
NM_172167.3
p.P7T
c.19C>A
1 paper
NM_172167.3
p.Y6*
c.18C>G
1 paper
NM_172167.3
p.Y6*
c.18C>A
3 papers
NM_172167.3
p.R5*
c.13C>T
1 paper
NM_172167.3
p.A60T
c.178G>A
1 paper
NM_172167.3
p.S66A
c.196T>G
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