Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_001032386.2

p.D512Y

c.1534G>T

Surrounding Variants

2 papers

NM_001032386.2

p.V517_I525insFs

c.1549_1574dup26

1 paper

NM_001032386.2

p.C508Y

c.1523G>A

4 papers

NM_001032386.2

p.C508fs

c.1522_1523fs

4 papers

NM_001032386.2

p.V507_C508delFs

c.1521_1524del4

1 paper

NM_001032386.2

p.Q518R

c.1553A>G

1 paper

NM_001032386.2

p.I525fs

c.1573_1574fs

1 paper

NM_001032386.2

p.I525insFs

c.1574_1575ins26

1 paper

NM_001032386.2

p.N527I

c.1580A>T

1 paper

NM_001032386.2

p.N527K

c.1581C>A

1 paper

NM_001032386.2

p.N527K

c.1581C>G

3 papers

NM_001032386.2

p.R529*

c.1585C>T

4 papers

NM_001032386.2

p.G530D

c.1589G>A