Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.R5ins1

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.R5ins1
c.14_15insTTC
Surrounding Variants
4 papers
NM_004168.4
p.R5Q
c.14G>A
2 papers
NM_004168.4
p.G6_R14insFs
c.17_42dup26
1 paper
NM_004168.4
p.R5insFs
c.14dupG
1 paper
NM_004168.4
p.R5insFs
c.14_15insTG
1 paper
NM_004168.4
p.R5insFs
c.13_14insTA
1 paper
NM_004168.4
p.R5insFs
c.13_14insTG
1 paper
NM_004168.4
p.R5W
c.13C>T
1 paper
NM_004168.4
p.G6_S12delFs
c.17_35del19
1 paper
NM_004168.4
p.V4_R5insFs
c.12_13insTG
3 papers
NM_004168.4
p.V4V
c.12C>T
1 paper
NM_004168.4
p.R5delFs
c.13_14delCG
2 papers
NM_004168.4
p.G6S
c.16G>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."