Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.G683V

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
11 papers
NM_001098.3
p.G683V
c.2048G>T
Surrounding Variants
2 papers
NM_001098.3
p.G683D
c.2048G>A
6 papers
NM_001098.3
p.R684W
c.2050C>T
1 paper
NM_001098.3
p.G682R
c.2044G>A
1 paper
NM_001098.3
p.G682R
c.2044G>C
1 paper
NM_001098.3
p.I686S
c.2057T>G
1 paper
NM_001098.3
p.R679H
c.2036G>A
1 paper
NM_001098.3
p.I687T
c.2060T>C
3 papers
NM_001098.3
p.R679C
c.2035C>T
1 paper
NM_001098.3
p.S690N
c.2069G>A
3 papers
NM_001098.3
p.R671Q
c.2012G>A
3 papers
NM_001098.3
p.R671W
c.2011C>T
3 papers
NM_001098.3
p.E696K
c.2086G>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."