Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.Q80delFs

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
1 paper
NM_001098.3
p.Q80delFs
c.239delA
Surrounding Variants
1 paper
NM_001098.3
p.Q80Q
c.240G>A
1 paper
NM_001098.3
p.P77P
c.231C>T
2 papers
NM_001098.3
p.I82T
c.245T>C
2 papers
NM_001098.3
p.R84*
c.250C>T
1 paper
NM_001098.3
p.D76N
c.226G>A
1 paper
NM_001098.3
p.R84L
c.251G>T
1 paper
NM_001098.3
p.R84R
c.252A>T
1 paper
NM_001098.3
p.G85D
c.254G>A
24 papers
NM_001098.3
p.L74V
c.220C>G
7 papers
NM_001098.3
p.S87L
c.260C>T
1 paper
NM_001098.3
p.Y71S
c.212A>C
2 papers
NM_001098.3
p.R92W
c.274C>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."