Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.G142fs

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.G142fs
c.424_425fs
Surrounding Variants
2 papers
NM_003001.5
p.G142S
c.424G>A
2 papers
NM_003001.5
p.G140E
c.419G>A
1 paper
NM_003001.5
p.K141delFs
c.423delA
1 paper
NM_003001.5
p.G140R
c.418G>A
3 papers
NM_003001.5
p.G140*
c.418G>T
1 paper
NM_003001.5
p.K144T
c.431A>C
2 papers
NM_003001.5
p.G140delFs
c.418delG
1 paper
NM_003001.5
p.K144N
c.432G>C
1 paper
NM_003001.5
p.K144N
c.432G>T
11 papers
NM_003001.5
p.L139P
c.416T>C
1 paper
NM_003001.5
p.L139R
c.416T>G
1 paper
NM_003001.5
p.I145delFs
c.435delT
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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."