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.P658delFs

c.1974delG

Surrounding Variants

4 papers

NM_004168.4

p.P658L

c.1973C>T

7 papers

NM_004168.4

p.P658P

c.1974G>C

1 paper

NM_004168.4

p.P659fs

c.1975_1976fs

1 paper

NM_004168.4

p.P659L

c.1976C>T

1 paper

NM_004168.4

p.V657A

c.1970T>C

31 papers

NM_004168.4

p.V657I

c.1969G>A

2 papers

NM_004168.4

p.A660T

c.1978G>A

9 papers

NM_004168.4

p.A660G

c.1979C>G

1 paper

NM_004168.4

p.A660V

c.1979C>T

1 paper

NM_004168.4

p.T656P

c.1966A>C

1 paper

NM_004168.4

p.A655V

c.1964C>T

1 paper

NM_004168.4

p.A655fs

c.1963_1964fs