Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.F96F

SDHC

504 papers

RefSeq Summary

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic r...

Pfam Domains

Sdh_cytaa 10–129UCSCSuccinate dehydrogenase/Fumarate reductase transmembrane subunit

Gene Aliases

HGNC Name

succinate dehydrogenase complex subunit C

HGNC Previous Symbol

PGL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003001.5
p.F96F
c.288T>C
Surrounding Variants
1 paper
NM_003001.5
p.F96_E97del1
c.288_290delTGA
1 paper
NM_003001.5
p.N95K
c.285C>A
1 paper
NM_003001.5
p.F96insFs
c.287dupT
1 paper
NM_003001.5
p.N95T
c.284A>C
1 paper
NM_003001.5
p.N95delFs
c.285delC
2 papers
NM_003001.5
p.S98T
c.292T>A
1 paper
NM_003001.5
p.S98P
c.292T>C
4 papers
NM_003001.5
p.S98A
c.292T>G
1 paper
NM_003001.5
p.S98C
c.293C>G
2 papers
NM_003001.5
p.S98F
c.293C>T
1 paper
NM_003001.5
p.G94_N95insFs
c.282_283ins4
2 papers
NM_003001.5
p.G94G
c.282G>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."