Varaico: Literature-Extracted Genetic Variants

Gene:ACO2

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
1–12 of 346 variants
24 papers
NM_001098.3
p.L74V
c.220C>G
20 papers
NM_001098.3
p.S112R
c.336C>G
18 papers
NM_001098.3
p.S112R
c.334A>C
18 papers
NM_001098.3
p.S112R
c.336C>A
18 papers
NM_001098.3
p.G259D
c.776G>A
16 papers
NM_001098.3
p.G661R
c.1981G>A
16 papers
NM_001098.3
p.P712L
c.2135C>T
15 papers
NM_001098.3
p.G661R
c.1981G>C
14 papers
NM_001098.3
p.K736N
c.2208G>C
12 papers
NM_001098.3
p.R607C
c.1819C>T
11 papers
NM_001098.3
p.G620D
c.1859G>A
11 papers
NM_001098.3
p.G683V
c.2048G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."