Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.S2insFs

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.S2insFs
c.5dupC
Surrounding Variants
2 papers
NM_004168.4
p.S2*
c.5C>A
1 paper
NM_004168.4
p.S2Fs
c.5delinsAAAFs
1 paper
NM_004168.4
p.G3insFs
c.9dupG
2 papers
NM_004168.4
p.S2delins
c.5delinsGAAA
3 papers
NM_004168.4
p.S2L
c.5C>T
1 paper
NM_004168.4
p.S2delFs
c.6delG
1 paper
NM_004168.4
p.G3delFs
c.7_8delGG
10 papers
NM_004168.4
p.M1I
c.3G>A
7 papers
NM_004168.4
p.M1I
c.3G>C
1 paper
NM_004168.4
p.M1_S2insFs
c.3_4insA
1 paper
NM_004168.4
p.S2insFs
c.4dupT
3 papers
NM_004168.4
p.M1I
c.3G>T
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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."