Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.E61G

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.E61G
c.182A>G
Surrounding Variants
1 paper
NM_004168.4
p.E61V
c.182A>T
1 paper
NM_004168.4
p.F62insFs
c.184_185insTC
2 papers
NM_004168.4
p.E61delFs
c.181delG
1 paper
NM_004168.4
p.D63_V66delFs
c.188_198del11
1 paper
NM_004168.4
p.D63delFs
c.187delG
1 paper
NM_004168.4
p.D63H
c.187G>C
1 paper
NM_004168.4
p.D59A
c.176A>C
2 papers
NM_004168.4
p.D59G
c.176A>G
2 papers
NM_004168.4
p.D63G
c.188A>G
1 paper
NM_004168.4
p.D63V
c.188A>T
1 paper
NM_004168.4
p.D59H
c.175G>C
1 paper
NM_004168.4
p.A64delFs
c.190delG
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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."