Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.E439K

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.E439K
c.1315G>A
Surrounding Variants
2 papers
NM_001032386.2
p.V438insFs
c.1313_1314insG
2 papers
NM_001032386.2
p.V438fs
c.1312_1313fs
2 papers
NM_001032386.2
p.V438_E439delFs
c.1313_1316del4
1 paper
NM_001032386.2
p.I445_Y448del4
c.1333_1343del12
1 paper
NM_001032386.2
p.R433W
c.1297C>T
2 papers
NM_001032386.2
p.W450R
c.1348T>A
2 papers
NM_001032386.2
p.W450R
c.1348T>C
1 paper
NM_001032386.2
p.S427S
c.1281G>A
3 papers
NM_001032386.2
p.S427S
c.1281G>C
2 papers
NM_001032386.2
p.S427*
c.1280C>A
1 paper
NM_001032386.2
p.S427W
c.1280C>G
3 papers
NM_001032386.2
p.G452D
c.1355G>A
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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."