Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.L74V

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
24 papers
NM_001098.3
p.L74V
c.220C>G
Surrounding Variants
1 paper
NM_001098.3
p.D76N
c.226G>A
1 paper
NM_001098.3
p.Y71S
c.212A>C
1 paper
NM_001098.3
p.P77P
c.231C>T
1 paper
NM_001098.3
p.Q80delFs
c.239delA
1 paper
NM_001098.3
p.E67A
c.200A>C
1 paper
NM_001098.3
p.Q80Q
c.240G>A
1 paper
NM_001098.3
p.E67Q
c.199G>C
2 papers
NM_001098.3
p.S66fs
c.196_197fs
2 papers
NM_001098.3
p.I82T
c.245T>C
1 paper
NM_001098.3
p.T64_L65insFs
c.192_193ins4
6 papers
NM_001098.3
p.T64T
c.192A>C
3 papers
NM_001098.3
p.S66delFs
c.196_197delTC
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