Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.A77delFs

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.A77delFs
c.229_230delGC
Surrounding Variants
1 paper
NM_004168.4
p.A77T
c.229G>A
1 paper
NM_004168.4
p.A77P
c.229G>C
1 paper
NM_004168.4
p.F78delFs
c.233delT
4 papers
NM_004168.4
p.R75Q
c.224G>A
1 paper
NM_004168.4
p.F78insFs
c.232_233insAA
1 paper
NM_004168.4
p.F78_S81delFs
c.234_243del10
25 papers
NM_004168.4
p.R75*
c.223C>T
1 paper
NM_004168.4
p.R75delFs
c.224delG
1 paper
NM_004168.4
p.L74F
c.222G>C
1 paper
NM_004168.4
p.L74F
c.222G>T
1 paper
NM_004168.4
p.G79_L80insFs
c.236_239dup4
1 paper
NM_004168.4
p.L74S
c.221T>C
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