Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.R40Q

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.R40Q
c.119G>A
Surrounding Variants
1 paper
NM_003001.5
p.R40_N43delFs
c.120_127del8
1 paper
NM_003001.5
p.R40insFs
c.120dupG
1 paper
NM_003001.5
p.R40_W42delFs
c.119_125del7
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
1 paper
NM_003001.5
p.F41fs
c.121_122fs
1 paper
NM_003001.5
p.E39delFs
c.117delG
1 paper
NM_003001.5
p.E39_R40delFs
c.117_120del4
1 paper
NM_003001.5
p.W42insFs
c.124_125dupTG
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