Varaico: Literature-Extracted Genetic Variants

SDHA

1,054 papers

RefSeq Summary

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is lo...

Pfam Domains

FAD_binding_2aa 63–457UCSCFAD binding domain

Succ_DH_flav_Caa 512–664UCSCFumarate reductase flavoprotein C-term

Gene Aliases

HGNC Name

succinate dehydrogenase complex flavoprotein subunit A

HGNC Previous Symbol

SDH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004168.4

p.Q577H

c.1731G>C

Surrounding Variants

1 paper

NM_004168.4

p.Q577H

c.1731G>T

1 paper

NM_001294332.2

p.Q529P

c.1586A>C

1 paper

NM_004168.4

p.T578I

c.1733C>T

1 paper

NM_004168.4

p.I579_H592ins4

c.1736_1774dup39

4 papers

NM_004168.4

p.L576P

c.1727T>C

1 paper

NM_004168.4

p.I579T

c.1736T>C

1 paper

NM_004168.4

p.I579I

c.1737C>T

4 papers

NM_004168.4

p.A575V

c.1724C>T

1 paper

NM_004168.4

p.Y580H

c.1738T>C

1 paper

NM_004168.4

p.Y580C

c.1739A>G

2 papers

NM_004168.4

p.A575T

c.1723G>A

1 paper

NM_004168.4

p.G581insFs

c.1742dupG