Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.N716K

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.N716K
c.2148C>A
Surrounding Variants
1 paper
NM_001098.3
p.N716K
c.2148C>G
3 papers
NM_001098.3
p.I718T
c.2153T>C
16 papers
NM_001098.3
p.P712L
c.2135C>T
3 papers
NM_001098.3
p.A710P
c.2128G>C
1 paper
NM_001098.3
p.L707P
c.2120T>C
1 paper
NM_001098.3
p.P706S
c.2116C>T
1 paper
NM_001098.3
p.G728delFs
c.2184delC
1 paper
NM_001098.3
p.L729fs
c.2185_2186fs
3 papers
NM_001098.3
p.G703R
c.2107G>C
1 paper
NM_001098.3
p.Q702fs
c.2104_2105fs
1 paper
NM_001098.3
p.Q702delFs
c.2105_2106delAG
2 papers
NM_001098.3
p.T697N
c.2090C>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."