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.A449G

c.1346C>G

Surrounding Variants

20 papers

NM_004168.4

p.A449V

c.1346C>T

1 paper

NM_004168.4

p.A449P

c.1345G>C

1 paper

NM_004168.4

p.N450S

c.1349A>G

1 paper

NM_004168.4

p.G448D

c.1343G>A

1 paper

NM_004168.4

p.G448V

c.1343G>T

1 paper

NM_004168.4

p.R451_L452delFs

c.1351_1355del5

1 paper

NM_004168.4

p.G448S

c.1342G>A

1 paper

NM_004168.4

p.R451S

c.1351C>A

1 paper

NM_004168.4

p.R451fs

c.1351_1352fs

24 papers

NM_004168.4

p.R451C

c.1351C>T

1 paper

NM_004168.4

p.G448_N450del3

c.1342_1349del9

8 papers

NM_004168.4

p.H447R

c.1340A>G