Varaico: Literature-Extracted Genetic Variants

Gene:SUCLG1
Variant:p.N171H

SUCLG1

154 papers

RefSeq Summary

This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to ...

Pfam Domains

CoA_bindingaa 53–146UCSCCoA binding domain
Ligase_CoAaa 199–324UCSCCoA-ligase

Gene Aliases

HGNC Name

succinate-CoA ligase GDP/ADP-forming subunit alpha

HGNC Previous Names

succinate-CoA ligase, GDP-forming, alpha subunit; succinate-CoA ligase, alpha subunit

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003849.4
p.N171H
c.511A>C
Surrounding Variants
5 papers
NM_003849.4
p.N171S
c.512A>G
1 paper
NM_003849.4
p.P170L
c.509C>T
8 papers
NM_003849.4
p.P170R
c.509C>G
1 paper
NM_003849.4
p.C172R
c.514T>C
1 paper
NM_003849.4
p.C172Y
c.515G>A
1 paper
NM_003849.4
p.G169E
c.506G>A
1 paper
NM_003849.4
p.P173T
c.517C>A
1 paper
NM_003849.4
p.P173R
c.518C>G
1 paper
NM_003849.4
p.I176N
c.527T>A
1 paper
NM_003849.4
p.N177_P178Splc
c.531+1G>A
3 papers
NM_003849.4
p.N177_P178Splc
c.531+4A>T
1 paper
NM_003849.4
p.R161H
c.482G>A
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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."