Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.V103L

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.V103L
c.307G>C
Surrounding Variants
1 paper
NM_003001.5
p.V103M
c.307G>A
2 papers
NM_003001.5
p.V103L
c.307G>T
1 paper
NM_003001.5
p.V103A
c.308T>C
1 paper
NM_003001.5
p.V103G
c.308T>G
1 paper
NM_003001.5
p.V103_L106delFs
c.307_316del10
1 paper
NM_003001.5
p.V103V
c.309G>A
1 paper
NM_003001.5
p.K104delFs
c.311delA
1 paper
NM_003001.5
p.L102P
c.305T>C
1 paper
NM_003001.5
p.K104insFs
c.311_312insG
1 paper
NM_003001.5
p.K104T
c.311A>C
1 paper
NM_003001.5
p.K104R
c.311A>G
2 papers
NM_003001.5
p.K104Fs
c.311delinsGGFs
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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."