Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L148fs

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.L148fs
c.442_443fs
Surrounding Variants
2 papers
NM_003001.5
p.L148delFs
c.443delT
1 paper
NM_003001.5
p.L148delFs
c.442delC
1 paper
NM_003001.5
p.L148_Y149delFs
c.444_447del4
2 papers
NM_003001.5
p.Y149_Q150insFs
c.445_448dup4
2 papers
NM_003001.5
p.Q147R
c.440A>G
1 paper
NM_003001.5
p.Q147delFs
c.441delG
1 paper
NM_003001.5
p.Q147_V154delFs
c.441_462del22
1 paper
NM_003001.5
p.Q147K
c.439C>A
1 paper
NM_003001.5
p.Q147_L148insA
c.439_443ins3
3 papers
NM_003001.5
p.Q147*
c.439C>T
1 paper
NM_003001.5
p.Y149insFs
c.445_446ins5
1 paper
NM_003001.5
p.Y149Fs
c.445_447delinsGGTATCTFs
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