Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.S88L

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
2 papers
NM_003001.5
p.S88L
c.263C>T
Surrounding Variants
3 papers
NM_003001.5
p.S88*
c.263C>A
1 paper
NM_003001.5
p.S88W
c.263C>G
1 paper
NM_003001.5
p.S88_L91delFs
c.264_273del10
1 paper
NM_003001.5
p.S88S
c.264G>A
1 paper
NM_003001.5
p.S88P
c.262T>C
1 paper
NM_003001.5
p.S88_A89ins4
c.262_266ins12
1 paper
NM_003001.5
p.A89V
c.266C>T
1 paper
NM_003001.5
p.M87T
c.260T>C
1 paper
NM_003001.5
p.M87V
c.259A>G
2 papers
NM_003001.5
p.M87delFs
c.260delT
1 paper
NM_003001.5
p.M87_S88del1
c.260_262delTGT
1 paper
NM_003001.5
p.A89A
c.267C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."