Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.G39_N40delFs

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.G39_N40delFs
c.117_120del4
Surrounding Variants
1 paper
NM_004168.4
p.N40insFs
c.118_119insGT
1 paper
NM_004168.4
p.N40fs
c.118_119fs
1 paper
NM_004168.4
p.N40D
c.118A>G
2 papers
NM_004168.4
p.N40fs
c.118_119fs
1 paper
NM_004168.4
p.N40_R42delFs
c.119_125del7
1 paper
NM_004168.4
p.D38E
c.114T>A
1 paper
NM_004168.4
p.D38E
c.114T>G
3 papers
NM_004168.4
p.G39delFs
c.117delG
2 papers
NM_004168.4
p.N40insFs
c.120dupC
20 papers
NM_004168.4
p.D38V
c.113A>T
1 paper
NM_004168.4
p.N40_A43delFs
c.120_127del8
1 paper
NM_004168.4
p.K41insFs
c.122dupA
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