Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.S62C

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.S62C
c.185C>G
Surrounding Variants
1 paper
NM_003001.5
p.S62F
c.185C>T
1 paper
NM_003001.5
p.S62delFs
c.186delT
1 paper
NM_003001.5
p.S62insFs
c.184_185insTC
1 paper
NM_003001.5
p.L63_A66delFs
c.188_198del11
5 papers
NM_003001.5
p.W61*
c.183G>A
5 papers
NM_003001.5
p.W61*
c.182G>A
2 papers
NM_003001.5
p.L63P
c.188T>C
3 papers
NM_003001.5
p.P64_I69delFs
c.191_207del17
1 paper
NM_003001.5
p.W61fs
c.181_182fs
1 paper
NM_003001.5
p.P64delFs
c.190delC
2 papers
NM_003001.5
p.P64delFs
c.191_192delCC
1 paper
NM_003001.5
p.W61delFs
c.183delG
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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."