Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L120_M125delFs

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.L120_M125delFs
c.359_374del16
Surrounding Variants
1 paper
NM_003001.5
p.L120_H127del8
c.358_380del24
1 paper
NM_003001.5
p.L120P
c.359T>C
1 paper
NM_003001.5
p.L120_L124delFs
c.360_372del13
1 paper
NM_003001.5
p.A119E
c.356C>A
1 paper
NM_003001.5
p.L120L
c.360T>C
1 paper
NM_003001.5
p.A119T
c.355G>A
1 paper
NM_003001.5
p.V121A
c.362T>C
1 paper
NM_003001.5
p.A119insFs
c.355dupG
1 paper
NM_003001.5
p.A119_M125del7
c.355_374del21
1 paper
NM_003001.5
p.F118S
c.353T>C
1 paper
NM_003001.5
p.F118delFs
c.352delT
1 paper
NM_003001.5
p.F122insFs
c.366dupC
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