Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.F18L

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.F18L
c.52T>C
Surrounding Variants
1 paper
NM_003001.5
p.F18insFs
c.53dupT
1 paper
NM_003001.5
p.F18_Q21del4
c.52_62del12
2 papers
NM_003001.5
p.F18L
c.54T>A
2 papers
NM_003001.5
p.F18L
c.54T>G
1 paper
NM_003001.5
p.S19insFs
c.55_56dupAG
2 papers
NM_003001.5
p.F18_S19insFs
c.54_55insC
1 paper
NM_003001.5
p.H17Y
c.49C>T
1 paper
NM_003001.5
p.S19delFs
c.57delC
1 paper
NM_003001.5
p.A16G
c.47C>G
2 papers
NM_003001.5
p.A16V
c.47C>T
1 paper
NM_003001.5
p.P20_C23del4
c.58_68del12
1 paper
NM_003001.5
p.A16T
c.46G>A
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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."