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

1 paper

NM_001032386.2

p.R489C

c.1465C>T

Surrounding Variants

1 paper

NM_001032386.2

p.P482S

c.1444C>T

4 papers

NM_001032386.2

p.V507_C508delFs

c.1521_1524del4

4 papers

NM_001032386.2

p.C508fs

c.1522_1523fs

1 paper

NM_001032386.2

p.C508Y

c.1523G>A

1 paper

NM_001032386.2

p.T469fs

c.1405_1406fs

1 paper

NM_001032386.2

p.T469_K474delFs

c.1406_1421del16

2 papers

NM_001032386.2

p.D512Y

c.1534G>T

1 paper

NM_001032386.2

p.L464fs

c.1390_1391fs

2 papers

NM_001032386.2

p.V517_I525insFs

c.1549_1574dup26

1 paper

NM_001032386.2

p.L464delFs

c.1390_1391delCT

1 paper

NM_001032386.2

p.D461V

c.1382A>T

1 paper

NM_001032386.2

p.Q518R

c.1553A>G