Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.S83F

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
3 papers
NM_003001.5
p.S83F
c.248C>T
Surrounding Variants
1 paper
NM_003001.5
p.L84_F85delFs
c.250_253del4
1 paper
NM_003001.5
p.S83fs
c.247_248fs
1 paper
NM_003001.5
p.S83insFs
c.247dupT
2 papers
NM_003001.5
p.F85ins0
c.253_255dupTTT
3 papers
NM_003001.5
p.L84F
c.250C>T
2 papers
NM_003001.5
p.F85delFs
c.255delT
1 paper
NM_003001.5
p.V82F
c.244G>T
2 papers
NM_003001.5
p.S83_L84delFs
c.249_250delTC
2 papers
NM_003001.5
p.L84L
c.252T>G
1 paper
NM_003001.5
p.F85_G86insFs
c.253_256dup4
1 paper
NM_003001.5
p.F85L
c.253T>C
3 papers
NM_003001.5
p.F85fs
c.253_254fs
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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."