Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.P29_L30delFs

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.P29_L30delFs
c.87_88delTT
Surrounding Variants
1 paper
NM_003001.5
p.P29L
c.86C>T
2 papers
NM_003001.5
p.L30delFs
c.88delT
1 paper
NM_003001.5
p.P29fs
c.85_86fs
1 paper
NM_003001.5
p.P29_G31Fs
c.86_92delinsGGFs
1 paper
NM_003001.5
p.L30ins0
c.88_90dupTTG
1 paper
NM_003001.5
p.L30insFs
c.88_89ins4
1 paper
NM_003001.5
p.P29delFs
c.86delC
1 paper
NM_003001.5
p.V28F
c.82G>T
1 paper
NM_003001.5
p.V28_T33del6
c.82_98del18
2 papers
NM_003001.5
p.A27D
c.80C>A
1 paper
NM_003001.5
p.G31E
c.92G>A
1 paper
NM_003001.5
p.T32delFs
c.94_95delAC
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