Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.S112R

ACO2

234 papers

RefSeq Summary

The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the ...

Pfam Domains

Aconitaseaa 67–503UCSCAconitase family (aconitate hydratase)
Aconitase_Caa 582–712UCSCAconitase C-terminal domain

Gene Aliases

HGNC Name

aconitase 2

HGNC Alias Symbol

ACONM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_001098.3
p.S112R
c.336C>G
Surrounding Variants
18 papers
NM_001098.3
p.S112R
c.336C>A
18 papers
NM_001098.3
p.S112R
c.334A>C
1 paper
NM_001098.3
p.I111delFs
c.333delC
3 papers
NM_001098.3
p.L108P
c.323T>C
2 papers
NM_001098.3
p.M107I
c.321G>A
2 papers
NM_001098.3
p.M107I
c.321G>C
2 papers
NM_001098.3
p.M107I
c.321G>T
1 paper
NM_001098.3
p.M107T
c.320T>C
1 paper
NM_001098.3
p.M107V
c.319A>G
1 paper
NM_001098.3
p.A106V
c.317C>T
1 paper
NM_001098.3
p.A106T
c.316G>A
1 paper
NM_001098.3
p.A103S
c.307G>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."