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.P95delFs

c.285delT

Surrounding Variants

1 paper

NM_004168.4

p.P95R

c.284C>G

1 paper

NM_004168.4

p.P95L

c.284C>T

2 papers

NM_004168.4

p.T96insFs

c.287dupC

1 paper

NM_004168.4

p.T96A

c.286A>G

1 paper

NM_004168.4

p.F94_P95insFs

c.282_283ins4

5 papers

NM_004168.4

p.T96I

c.287C>T

1 paper

NM_004168.4

p.T96_R97del1

c.288_290delCAG

1 paper

NM_004168.4

p.F94I

c.280T>A

2 papers

NM_004168.4

p.R97W

c.289A>T

1 paper

NM_004168.4

p.R97_S98delFs

c.290_293del4

1 paper

NM_004168.4

p.F94delFs

c.281_282delTT

1 paper

NM_004168.4

p.F94_P95del2

c.280_284del6