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

1 paper

NM_004168.4

p.E490delFs

c.1468_1469delGA

Surrounding Variants

1 paper

NM_004168.4

p.E490K

c.1468G>A

1 paper

NM_004168.4

p.G489A

c.1466G>C

1 paper

NM_004168.4

p.E490fs

c.1468_1469fs

3 papers

NM_004168.4

p.E490*

c.1468G>T

1 paper

NM_004168.4

p.G489V

c.1466G>T

1 paper

NM_004168.4

p.A488V

c.1463C>T

8 papers

NM_004168.4

p.E491*

c.1471G>T

2 papers

NM_004168.4

p.E491A

c.1472A>C

1 paper

NM_004168.4

p.E491G

c.1472A>G

2 papers

NM_004168.4

p.A488T

c.1462G>A

1 paper

NM_004168.4

p.A488S

c.1462G>T

1 paper

NM_004168.4

p.S492insFs

c.1474dupT