Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L166V

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
3 papers
NM_003001.5
p.L166V
c.496C>G
Surrounding Variants
2 papers
NM_003001.5
p.L166_*170del5
c.496_509del15
3 papers
NM_003001.5
p.L166R
c.497T>G
1 paper
NM_003001.5
p.M164I
c.492G>A
2 papers
NM_003001.5
p.M164I
c.492G>C
1 paper
NM_003001.5
p.M164I
c.492G>T
1 paper
NM_003001.5
p.A168_M169del2
c.502_506del6
1 paper
NM_003001.5
p.G165delFs
c.493delG
9 papers
NM_003001.5
p.M164L
c.490A>C
2 papers
NM_003001.5
p.M164V
c.490A>G
10 papers
NM_003001.5
p.M164L
c.490A>T
1 paper
NM_003001.5
p.M164delFs
c.491delT
1 paper
NM_003001.5
p.A168insFs
c.502_503insC
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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."