Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.F33C

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.F33C
c.98T>G
Surrounding Variants
1 paper
NM_004168.4
p.F33S
c.98T>C
1 paper
NM_004168.4
p.F33V
c.97T>G
1 paper
NM_004168.4
p.H34_T36delFs
c.101_107del7
1 paper
NM_004168.4
p.F33fs
c.97_98fs
1 paper
NM_004168.4
p.F33_T36delFs
c.98_107del10
1 paper
NM_004168.4
p.H34fs
c.100_101fs
1 paper
NM_004168.4
p.H34Y
c.100C>T
3 papers
NM_004168.4
p.H34R
c.101A>G
1 paper
NM_004168.4
p.G32V
c.95G>T
1 paper
NM_004168.4
p.G32delFs
c.94_95delGG
1 paper
NM_004168.4
p.F35L
c.103T>C
4 papers
NM_004168.4
p.R31Q
c.92G>A
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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."