Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.P93P

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.P93P
c.279T>G
Surrounding Variants
1 paper
NM_003001.5
p.G94_N95del2
c.280_284del6
1 paper
NM_003001.5
p.P93H
c.278C>A
2 papers
NM_003001.5
p.P93L
c.278C>T
1 paper
NM_003001.5
p.G94insFs
c.280_281insT
1 paper
NM_003001.5
p.G94insFs
c.280_281insTT
1 paper
NM_003001.5
p.G94ins1
c.280_281insTTT
2 papers
NM_003001.5
p.G94E
c.281G>A
1 paper
NM_003001.5
p.G94_N95insFs
c.282_283ins4
2 papers
NM_003001.5
p.G94G
c.282G>T
2 papers
NM_003001.5
p.P93insFs
c.278dupC
3 papers
NM_003001.5
p.P93delFs
c.277delC
1 paper
NM_003001.5
p.L92_P93del1
c.276_278delCCC
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