Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.Q27delFs

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.Q27delFs
c.79delC
Surrounding Variants
1 paper
NM_004168.4
p.Q27E
c.79C>G
2 papers
NM_004168.4
p.Q27*
c.79C>T
1 paper
NM_004168.4
p.Q27H
c.81A>C
1 paper
NM_004168.4
p.Q27H
c.81A>T
1 paper
NM_004168.4
p.T28I
c.83C>T
1 paper
NM_004168.4
p.V25M
c.73G>A
2 papers
NM_004168.4
p.V25L
c.73G>C
2 papers
NM_004168.4
p.V25L
c.73G>T
2 papers
NM_004168.4
p.V25delFs
c.73delG
1 paper
NM_004168.4
p.V25_L26delFs
c.73_76del4
1 paper
NM_004168.4
p.T24I
c.71C>T
1 paper
NM_004168.4
p.T24insFs
c.71dupC
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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."