Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L90L

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
10 papers
NM_003001.5
p.L90L
c.268C>T
Surrounding Variants
1 paper
NM_003001.5
p.L90V
c.268C>G
1 paper
NM_003001.5
p.L90_L91delFs
c.269_273del5
1 paper
NM_003001.5
p.A89A
c.267C>G
1 paper
NM_003001.5
p.L90P
c.269T>C
2 papers
NM_003001.5
p.L91_G94del0
c.271_282del12
1 paper
NM_003001.5
p.A89V
c.266C>T
1 paper
NM_003001.5
p.L91insFs
c.272dupT
1 paper
NM_003001.5
p.L91fs
c.271_272fs
1 paper
NM_003001.5
p.S88S
c.264G>A
1 paper
NM_003001.5
p.L92_P93del0
c.274_279del6
3 papers
NM_003001.5
p.S88*
c.263C>A
1 paper
NM_003001.5
p.S88W
c.263C>G
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