Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.C158R

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
1 paper
NM_000035.4
p.C158R
c.472T>C
Surrounding Variants
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
1 paper
NM_000035.4
p.S161N
c.482G>A
2 papers
NM_000035.4
p.S160_S161delFs
c.479_482del4
1 paper
NM_000035.4
p.A163fs
c.487_488fs
5 papers
NM_000035.4
p.A163V
c.488C>T
1 paper
NM_000035.4
p.V151M
c.451G>A
78 papers
NM_000035.4
p.A150P
c.448G>C
1 paper
NM_000035.4
p.E166V
c.497A>T
1 paper
NM_000035.4
p.N167Y
c.499A>T
8 papers
NM_000035.4
p.W148*
c.444G>A
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