Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.R217Q

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
8 papers
NM_001032386.2
p.R217Q
c.650G>A
Surrounding Variants
1 paper
NM_001032386.2
p.R217L
c.650G>T
1 paper
NM_001032386.2
p.R217G
c.649C>G
1 paper
NM_001032386.2
p.R217W
c.649C>T
1 paper
NM_001032386.2
p.P210L
c.629C>T
1 paper
NM_001032386.2
p.E205*
c.613G>T
1 paper
NM_001032386.2
p.P200L
c.599C>T
1 paper
NM_001032386.2
p.P199L
c.596C>T
1 paper
NM_001032386.2
p.E197K
c.589G>A
1 paper
NM_001032386.2
p.E197_P199del0
c.590_595del6
2 papers
NM_001032386.2
p.Q191fs
c.571_572fs
1 paper
NM_001032386.2
p.L245_S246delFs
c.734_737del4
1 paper
NM_001032386.2
p.S190N
c.569G>A
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