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

5 papers

NM_004168.4

p.S50_I51Splc

c.150+1G>A

Surrounding Variants

1 paper

NM_004168.4

p.S50S

c.150C>A

1 paper

NM_004168.4

p.S50S

c.150C>T

2 papers

NM_004168.4

p.S50F

c.149C>T

1 paper

NM_004168.4

p.S50A

c.148T>G

1 paper

NM_004168.4

p.S50insFs

c.149dupC

1 paper

NM_004168.4

p.S50_I51Splc

c.150+5G>T

1 paper

NM_004168.4

p.D49_S50insFs

c.147_148insA

1 paper

NM_004168.4

p.D49insFs

c.147dupT

4 papers

NM_004168.4

p.D49G

c.146A>G

1 paper

NM_004168.4

p.D49V

c.146A>T

1 paper

NM_004168.4

p.S50_I51Splc

c.150+6T>G

1 paper

NM_004168.4

p.D49N

c.145G>A