Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.R15*

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
37 papers
NM_003001.5
p.R15*
c.43C>T
Surrounding Variants
1 paper
NM_003001.5
p.R15insFs
c.44_45dupGA
1 paper
NM_003001.5
p.R15P
c.44G>C
2 papers
NM_003001.5
p.A16_F18insFs
c.46_52dup7
1 paper
NM_003001.5
p.R15delFs
c.43delC
1 paper
NM_003001.5
p.L14I
c.40C>A
1 paper
NM_003001.5
p.L14F
c.40C>T
1 paper
NM_003001.5
p.A16T
c.46G>A
1 paper
NM_003001.5
p.A16fs
c.46_47fs
2 papers
NM_003001.5
p.H17delFs
c.49delC
2 papers
NM_003001.5
p.C13*
c.39C>A
1 paper
NM_003001.5
p.A16G
c.47C>G
2 papers
NM_003001.5
p.A16V
c.47C>T
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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."