Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.C70S

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.C70S
c.209G>C
Surrounding Variants
2 papers
NM_003001.5
p.C70_H71insFs
c.210_211insC
2 papers
NM_003001.5
p.C70F
c.209G>T
1 paper
NM_003001.5
p.C70_G73del4
c.208_218del12
1 paper
NM_003001.5
p.I69V
c.205A>G
1 paper
NM_003001.5
p.I69fs
c.205_206fs
1 paper
NM_003001.5
p.I69_G73delFs
c.206_218del13
2 papers
NM_003001.5
p.R72fs
c.214_215fs
1 paper
NM_003001.5
p.R72G
c.214C>G
16 papers
NM_003001.5
p.R72C
c.214C>T
4 papers
NM_003001.5
p.S68S
c.204C>T
2 papers
NM_003001.5
p.R72delFs
c.215delG
4 papers
NM_003001.5
p.R72H
c.215G>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."