Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L161V

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.L161V
c.481T>G
Surrounding Variants
1 paper
NM_003001.5
p.L161delFs
c.481delT
2 papers
NM_003001.5
p.V160M
c.478G>A
1 paper
NM_003001.5
p.V160delFs
c.478delG
1 paper
NM_003001.5
p.T159N
c.476C>A
1 paper
NM_003001.5
p.V160insFs
c.479_480insGT
2 papers
NM_003001.5
p.S162S
c.486C>G
2 papers
NM_003001.5
p.T159I
c.476C>T
1 paper
NM_003001.5
p.T159A
c.475A>G
10 papers
NM_003001.5
p.S163P
c.487T>C
1 paper
NM_003001.5
p.S163F
c.488C>T
1 paper
NM_003001.5
p.L158L
c.474T>C
1 paper
NM_003001.5
p.T159delFs
c.475delA
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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."