Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.Y59C

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.Y59C
c.176A>G
Surrounding Variants
1 paper
NM_003001.5
p.Y59S
c.176A>C
1 paper
NM_003001.5
p.Y59fs
c.175_176fs
1 paper
NM_003001.5
p.S60G
c.178A>G
1 paper
NM_003001.5
p.I58_Y59delins
c.174_175delinsTT
1 paper
NM_003001.5
p.Y59delFs
c.175delT
2 papers
NM_003001.5
p.S60I
c.179G>T
1 paper
NM_003001.5
p.I58T
c.173T>C
1 paper
NM_003001.5
p.I58V
c.172A>G
1 paper
NM_003001.5
p.I58delFs
c.173delT
1 paper
NM_003001.5
p.S60Splc
c.179+1G>C
1 paper
NM_003001.5
p.S60Splc
c.179+2T>G
1 paper
NM_003001.5
p.S60Splc
c.179+3A>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."