Varaico: Literature-Extracted Genetic Variants

Gene:NOXO1
Variant:p.S154A

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.S154A
c.460T>G
Surrounding Variants
1 paper
NM_172167.3
p.C170insFs
c.509dupG
1 paper
NM_172167.3
p.D188H
c.562G>C
2 papers
NM_172167.3
p.W197R
c.589T>C
2 papers
NM_172167.3
p.W197R
c.589T>A
1 paper
NM_172167.3
p.S229A
c.685T>G
1 paper
NM_172167.3
p.S66F
c.197C>T
1 paper
NM_172167.3
p.S66A
c.196T>G
1 paper
NM_172167.3
p.A60T
c.178G>A
1 paper
NM_172167.3
p.P235S
c.703C>T
1 paper
NM_172167.3
p.Q236*
c.706C>T
1 paper
NM_172167.3
p.R241C
c.721C>T
1 paper
NM_172167.3
p.Y243F
c.728A>T
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