Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.R50C

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
16 papers
NM_003001.5
p.R50C
c.148C>T
Surrounding Variants
1 paper
NM_003001.5
p.R50S
c.148C>A
2 papers
NM_003001.5
p.R50insFs
c.149dupG
1 paper
NM_003001.5
p.R50fs
c.148_149fs
1 paper
NM_003001.5
p.N49_R50insFs
c.147_148insA
4 papers
NM_003001.5
p.R50H
c.149G>A
1 paper
NM_003001.5
p.R50delFs
c.150delT
1 paper
NM_003001.5
p.N49insFs
c.147dupC
1 paper
NM_003001.5
p.R50_P51insFs
c.148_151dup4
1 paper
NM_003001.5
p.N49S
c.146A>G
2 papers
NM_003001.5
p.R50R
c.150T>C
2 papers
NM_003001.5
p.L52delFs
c.154_155delCT
1 paper
NM_003001.5
p.P51delFs
c.153delT
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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."