Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.I76S

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.I76S
c.227T>G
Surrounding Variants
1 paper
NM_003001.5
p.A77delFs
c.229_230delGC
1 paper
NM_003001.5
p.G75G
c.225T>C
1 paper
NM_003001.5
p.L78insFs
c.233dupT
1 paper
NM_003001.5
p.L78delFs
c.233delT
14 papers
NM_003001.5
p.G75D
c.224G>A
2 papers
NM_003001.5
p.G75R
c.223G>C
1 paper
NM_003001.5
p.L78fs
c.232_233fs
2 papers
NM_003001.5
p.G75delFs
c.224delG
1 paper
NM_003001.5
p.T74insFs
c.221dupC
1 paper
NM_003001.5
p.L78F
c.234G>T
1 paper
NM_003001.5
p.S79_A80insFs
c.236_239dup4
1 paper
NM_003001.5
p.S79C
c.235A>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."