Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.R25G

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.R25G
c.73A>G
Surrounding Variants
1 paper
NM_003001.5
p.R25*
c.73A>T
1 paper
NM_003001.5
p.R25_N26delFs
c.73_76del4
1 paper
NM_003001.5
p.R25K
c.74G>A
1 paper
NM_003001.5
p.R25T
c.74G>C
1 paper
NM_003001.5
p.I24insFs
c.71dupT
1 paper
NM_003001.5
p.I24V
c.70A>G
1 paper
NM_003001.5
p.I24_R25delFs
c.70_73del4
3 papers
NM_003001.5
p.N26Splc
c.77+1G>A
1 paper
NM_003001.5
p.C23S
c.68G>C
1 paper
NM_003001.5
p.N26Splc
c.77+2T>G
1 paper
NM_003001.5
p.C23delFs
c.68delG
1 paper
NM_003001.5
p.C23fs
c.67_68fs
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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."