Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.F78_S81delFs

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.F78_S81delFs
c.234_243del10
Surrounding Variants
1 paper
NM_004168.4
p.F78insFs
c.232_233insAA
1 paper
NM_004168.4
p.F78delFs
c.233delT
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.G79_L80insFs
c.236_239dup4
1 paper
NM_004168.4
p.G79D
c.236G>A
1 paper
NM_004168.4
p.A77delFs
c.229_230delGC
1 paper
NM_004168.4
p.L80insFs
c.239dupT
2 papers
NM_004168.4
p.L80F
c.238C>T
1 paper
NM_004168.4
p.L80P
c.239T>C
4 papers
NM_004168.4
p.R75Q
c.224G>A
1 paper
NM_004168.4
p.S81delFs
c.242_243delCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."