Varaico: Literature-Extracted Genetic Variants

Gene:ACO1
Variant:p.C50R

ACO1

210 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When ce...

Pfam Domains

Aconitaseaa 59–564UCSCAconitase family (aconitate hydratase)
Aconitase_Caa 692–821UCSCAconitase C-terminal domain

Gene Aliases

HGNC Name

aconitase 1

HGNC Previous Symbol

IREB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002197.3
p.C50R
c.148T>C
Surrounding Variants
1 paper
NM_002197.3
p.R48Q
c.143G>A
1 paper
NM_002197.3
p.E52D
c.156G>C
1 paper
NM_002197.3
p.E52D
c.156G>T
1 paper
NM_002197.3
p.A46V
c.137C>T
2 papers
NM_002197.3
p.K56N
c.168G>T
1 paper
NM_002197.3
p.S38L
c.113C>T
1 paper
NM_002197.3
p.P36T
c.106C>A
1 paper
NM_002197.3
p.R34H
c.101G>A
4 papers
NM_002197.3
p.T69M
c.206C>T
1 paper
NM_002197.3
p.I74M
c.222A>G
1 paper
NM_002197.3
p.A81D
c.242C>A
1 paper
NM_002197.3
p.F88C
c.263T>G
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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."