Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.A163V

ALDOB

204 papers

RefSeq Summary

Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacet...

Pfam Domains

Glycolyticaa 15–364UCSCFructose-bisphosphate aldolase class-I

Gene Aliases

HGNC Name

aldolase, fructose-bisphosphate B

HGNC Previous Name

aldolase B, fructose-bisphosphate

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000035.4
p.A163V
c.488C>T
Surrounding Variants
1 paper
NM_000035.4
p.A163fs
c.487_488fs
2 papers
NM_000035.4
p.S160_S161delFs
c.479_482del4
1 paper
NM_000035.4
p.S161N
c.482G>A
1 paper
NM_000035.4
p.E166V
c.497A>T
1 paper
NM_000035.4
p.N167Y
c.499A>T
1 paper
NM_000035.4
p.C158R
c.472T>C
2 papers
NM_000035.4
p.Q157*
c.469C>T
1 paper
NM_000035.4
p.D156H
c.466G>C
1 paper
NM_000035.4
p.A155delFs
c.465delG
2 papers
NM_000035.4
p.A172A
c.516T>A
6 papers
NM_000035.4
p.Y174*
c.522C>G
3 papers
NM_000035.4
p.Y174*
c.522C>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."