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.G73_A76del4

c.217_227del12

Surrounding Variants

1 paper

NM_004168.4

p.G73R

c.217G>C

2 papers

NM_004168.4

p.A72T

c.214G>A

1 paper

NM_004168.4

p.G73insFs

c.218_219insA

1 paper

NM_004168.4

p.A72S

c.214G>T

1 paper

NM_004168.4

p.G73V

c.218G>T

1 paper

NM_004168.4

p.A72delFs

c.215delC

3 papers

NM_004168.4

p.L74insFs

c.221dupT

2 papers

NM_004168.4

p.G71E

c.212G>A

2 papers

NM_004168.4

p.L74fs

c.220_221fs

1 paper

NM_004168.4

p.G71fs

c.211_212fs

1 paper

NM_004168.4

p.L74S

c.221T>C

1 paper

NM_004168.4

p.L74W

c.221T>G