Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.M1K

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
3 papers
NM_003001.5
p.M1K
c.2T>A
Surrounding Variants
4 papers
NM_003001.5
p.M1T
c.2T>C
4 papers
NM_003001.5
p.M1R
c.2T>G
1 paper
NM_003001.5
p.M1insFs
c.3dupG
1 paper
NM_003001.5
p.M1fs
c.1_2fs
4 papers
NM_003001.5
p.M1insFs
c.2dupT
3 papers
NM_003001.5
p.M1L
c.1A>C
20 papers
NM_003001.5
p.M1V
c.1A>G
4 papers
NM_003001.5
p.M1L
c.1A>T
10 papers
NM_003001.5
p.M1I
c.3G>A
7 papers
NM_003001.5
p.M1I
c.3G>C
1 paper
NM_003001.5
p.M1_A2insFs
c.3_4insA
6 papers
NM_003001.5
p.M1I
c.3G>T
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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."