Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.G259D

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
18 papers
NM_001098.3
p.G259D
c.776G>A
Surrounding Variants
1 paper
NM_001098.3
p.G260delFs
c.779_780delGC
2 papers
NM_001098.3
p.A252T
c.754G>A
1 paper
NM_001098.3
p.G269R
c.805G>A
1 paper
NM_001098.3
p.G269R
c.805G>C
1 paper
NM_001098.3
p.I248T
c.743T>C
3 papers
NM_001098.3
p.I248fs
c.742_743fs
1 paper
NM_001098.3
p.G271D
c.812G>A
3 papers
NM_001098.3
p.V247A
c.740T>C
3 papers
NM_001098.3
p.V247delFs
c.741delG
1 paper
NM_001098.3
p.P244L
c.731C>T
2 papers
NM_001098.3
p.G240D
c.719G>A
7 papers
NM_001098.3
p.G240A
c.719G>C
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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."