Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L5insFs

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
1 paper
NM_003001.5
p.L5insFs
c.14_15insTG
Surrounding Variants
1 paper
NM_003001.5
p.L5S
c.14T>C
1 paper
NM_003001.5
p.L5W
c.14T>G
1 paper
NM_003001.5
p.L5ins1
c.14_15insTTC
1 paper
NM_003001.5
p.L5L
c.15G>A
1 paper
NM_003001.5
p.L5F
c.15G>C
1 paper
NM_003001.5
p.L5F
c.15G>T
1 paper
NM_003001.5
p.L5insFs
c.13_14insTA
1 paper
NM_003001.5
p.L5insFs
c.13_14insTG
2 papers
NM_003001.5
p.L6insFs
c.17_18dupTG
1 paper
NM_003001.5
p.L6V
c.16C>G
1 paper
NM_003001.5
p.L4L
c.12G>A
1 paper
NM_003001.5
p.L4L
c.12G>C
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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."