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

112 papers

NM_004168.4

p.R31*

c.91C>T

Surrounding Variants

1 paper

NM_004168.4

p.R31_G32insGG

c.91_95ins6

4 papers

NM_004168.4

p.R31Q

c.92G>A

1 paper

NM_004168.4

p.R31P

c.92G>C

1 paper

NM_004168.4

p.G32delFs

c.94_95delGG

1 paper

NM_004168.4

p.T30I

c.89C>T

2 papers

NM_004168.4

p.T30insFs

c.89dupC

1 paper

NM_004168.4

p.T30insFs

c.88_89ins4

1 paper

NM_004168.4

p.T30S

c.88A>T

1 paper

NM_004168.4

p.T30ins0

c.88_90dupACC

1 paper

NM_004168.4

p.G32V

c.95G>T

1 paper

NM_004168.4

p.G29E

c.86G>A

2 papers

NM_004168.4

p.T30delFs

c.88delA