Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.C13Y

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.C13Y
c.38G>A
Surrounding Variants
1 paper
NM_003001.5
p.C13S
c.38G>C
1 paper
NM_003001.5
p.L14insFs
c.40dupC
2 papers
NM_003001.5
p.C13*
c.39C>A
1 paper
NM_003001.5
p.C13S
c.37T>A
1 paper
NM_003001.5
p.L14I
c.40C>A
1 paper
NM_003001.5
p.L14F
c.40C>T
1 paper
NM_003001.5
p.C13_L14del2
c.37_41del6
1 paper
NM_003001.5
p.H12_C13ins2
c.36_37ins6
1 paper
NM_003001.5
p.H12_C13delFs
c.36_37delTT
1 paper
NM_003001.5
p.R15delFs
c.43delC
1 paper
NM_003001.5
p.H12insFs
c.35dupA
1 paper
NM_003001.5
p.H12Y
c.34C>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."