Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.G131R

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.G131R
c.391G>C
Surrounding Variants
2 papers
NM_003001.5
p.G131R
c.391G>A
2 papers
NM_003001.5
p.G131W
c.391G>T
1 paper
NM_003001.5
p.G131delFs
c.392delG
1 paper
NM_003001.5
p.I132delFs
c.394delA
1 paper
NM_003001.5
p.I132insFs
c.395_396dupTC
1 paper
NM_003001.5
p.N130D
c.388A>G
3 papers
NM_003001.5
p.W129*
c.387G>A
1 paper
NM_003001.5
p.N130insFs
c.388dupA
1 paper
NM_003001.5
p.I132I
c.396C>A
3 papers
NM_003001.5
p.W129*
c.386G>A
55 papers
NM_003001.5
p.R133*
c.397C>T
1 paper
NM_003001.5
p.W129insFs
c.386_387dupGG
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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."