Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.Y126_G131delFs

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.Y126_G131delFs
c.376_391del16
Surrounding Variants
1 paper
NM_003001.5
p.L124L
c.372C>A
2 papers
NM_003001.5
p.M125insFs
c.373_374ins11
1 paper
NM_003001.5
p.L124P
c.371T>C
1 paper
NM_003001.5
p.L124delFs
c.372delC
1 paper
NM_003001.5
p.L124_N130delins
c.371_390delinsGG
1 paper
NM_003001.5
p.L124fs
c.370_371fs
2 papers
NM_003001.5
p.L124F
c.370C>T
3 papers
NM_003001.5
p.M125R
c.374T>G
2 papers
NM_003001.5
p.Y126insFs
c.376dupT
1 paper
NM_003001.5
p.P123_L124insFs
c.369_370insA
1 paper
NM_003001.5
p.L124delFs
c.370delC
2 papers
NM_003001.5
p.Y126fs
c.376_377fs
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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."