Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.N49fs

SUOX

160 papers

RefSeq Summary

Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidatio...

Pfam Domains

Cyt-b5aa 86–161UCSCCytochrome b5-like Heme/Steroid binding domain
Oxidored_molybaa 219–395UCSCOxidoreductase molybdopterin binding domain
Mo-co_dimeraa 417–544UCSCMo-co oxidoreductase dimerisation domain

Gene Aliases

HGNC Name

sulfite oxidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001032386.2
p.N49fs
c.145_146fs
Surrounding Variants
1 paper
NM_001032386.2
p.D48_N49insFs
c.144_145insC
1 paper
NM_001032386.2
p.G47_D48insFs
c.141_142insG
1 paper
NM_001032386.2
p.S46T
c.136T>A
1 paper
NM_001032386.2
p.T44A
c.130A>G
1 paper
NM_001032386.2
p.P38insFs
c.113_114insC
1 paper
NM_001032386.2
p.L61L
c.181C>T
5 papers
NM_001032386.2
p.L61P
c.182T>C
1 paper
NM_001032386.2
p.G63S
c.187G>A
1 paper
NM_001032386.2
p.G63D
c.188G>A
1 paper
NM_001032386.2
p.A69P
c.205G>C
1 paper
NM_001032386.2
p.R74W
c.220C>T
3 papers
NM_001032386.2
p.R76S
c.228G>C
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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."