Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.F41L

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.F41L
c.123C>G
Surrounding Variants
1 paper
NM_003001.5
p.W42insFs
c.124_125dupTG
1 paper
NM_003001.5
p.W42R
c.124T>C
1 paper
NM_003001.5
p.W42delFs
c.126delG
5 papers
NM_003001.5
p.W42*
c.125G>A
1 paper
NM_003001.5
p.F41fs
c.121_122fs
5 papers
NM_003001.5
p.W42*
c.126G>A
2 papers
NM_003001.5
p.R40R
c.120G>A
1 paper
NM_003001.5
p.R40R
c.120G>C
2 papers
NM_003001.5
p.R40_F41insFs
c.120_121insC
1 paper
NM_003001.5
p.F41insFs
c.122dupT
1 paper
NM_003001.5
p.F41delFs
c.122delT
2 papers
NM_003001.5
p.R40Q
c.119G>A
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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."