Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.R133insFs

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.R133insFs
c.399dupA
Surrounding Variants
1 paper
NM_003001.5
p.R133Q
c.398G>A
55 papers
NM_003001.5
p.R133*
c.397C>T
1 paper
NM_003001.5
p.I132I
c.396C>A
2 papers
NM_003001.5
p.H134R
c.401A>G
1 paper
NM_003001.5
p.I132insFs
c.395_396dupTC
1 paper
NM_003001.5
p.H134Q
c.402C>A
1 paper
NM_003001.5
p.H134Q
c.402C>G
1 paper
NM_003001.5
p.I132delFs
c.394delA
1 paper
NM_003001.5
p.L135_M136ins13
c.403_407ins39
2 papers
NM_003001.5
p.L135delFs
c.405delG
2 papers
NM_003001.5
p.G131R
c.391G>A
1 paper
NM_003001.5
p.G131R
c.391G>C
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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."