Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.R607C

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
12 papers
NM_001098.3
p.R607C
c.1819C>T
Surrounding Variants
3 papers
NM_001098.3
p.R607H
c.1820G>A
1 paper
NM_001098.3
p.L604L
c.1812C>G
1 paper
NM_001098.3
p.W603*
c.1809G>A
1 paper
NM_001098.3
p.W603*
c.1808G>A
3 papers
NM_001098.3
p.W603S
c.1808G>C
1 paper
NM_001098.3
p.G601D
c.1802G>A
1 paper
NM_001098.3
p.S614C
c.1841C>G
3 papers
NM_001098.3
p.I597F
c.1789A>T
1 paper
NM_001098.3
p.H596P
c.1787A>C
7 papers
NM_001098.3
p.H596R
c.1787A>G
11 papers
NM_001098.3
p.G620D
c.1859G>A
1 paper
NM_001098.3
p.C592Y
c.1775G>A
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