Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.Y99H

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.Y99H
c.295T>C
Surrounding Variants
4 papers
NM_003001.5
p.Y99N
c.295T>A
1 paper
NM_003001.5
p.Y99delFs
c.296delA
1 paper
NM_003001.5
p.Y99C
c.296A>G
2 papers
NM_003001.5
p.Y99delFs
c.297delT
1 paper
NM_003001.5
p.Y99delFs
c.295_296delTA
1 paper
NM_003001.5
p.S98C
c.293C>G
2 papers
NM_003001.5
p.S98F
c.293C>T
1 paper
NM_003001.5
p.L100_E101delFs
c.298_301del4
2 papers
NM_003001.5
p.S98T
c.292T>A
1 paper
NM_003001.5
p.S98P
c.292T>C
1 paper
NM_003001.5
p.L100L
c.298T>C
4 papers
NM_003001.5
p.S98A
c.292T>G
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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."