Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.G3_R5delFs

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.G3_R5delFs
c.9_13del5
Surrounding Variants
1 paper
NM_004168.4
p.G3A
c.8G>C
1 paper
NM_004168.4
p.G3_L7delFs
c.9_19del11
1 paper
NM_004168.4
p.G3R
c.7G>A
1 paper
NM_004168.4
p.G3W
c.7G>T
2 papers
NM_004168.4
p.V4I
c.10G>A
1 paper
NM_004168.4
p.V4F
c.10G>T
1 paper
NM_004168.4
p.V4fs
c.10_11fs
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
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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."