Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.G75R

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
2 papers
NM_003001.5
p.G75R
c.223G>C
Surrounding Variants
14 papers
NM_003001.5
p.G75D
c.224G>A
2 papers
NM_003001.5
p.G75delFs
c.224delG
1 paper
NM_003001.5
p.G75G
c.225T>C
1 paper
NM_003001.5
p.T74insFs
c.221dupC
1 paper
NM_003001.5
p.G73G
c.219C>T
2 papers
NM_003001.5
p.I76S
c.227T>G
1 paper
NM_003001.5
p.G73insFs
c.218_219insA
1 paper
NM_003001.5
p.G73V
c.218G>T
1 paper
NM_003001.5
p.A77delFs
c.229_230delGC
1 paper
NM_003001.5
p.L78insFs
c.233dupT
1 paper
NM_003001.5
p.L78delFs
c.233delT
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."