Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB

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
1–12 of 200 variants
78 papers
NM_000035.4
p.A150P
c.448G>C
46 papers
NM_000035.4
p.A175D
c.524C>A
32 papers
NM_000035.4
p.A338V
c.1013C>T
31 papers
NM_000035.4
p.N335K
c.1005C>G
26 papers
NM_000035.4
p.N335K
c.1005C>A
23 papers
NM_000035.4
p.N120_K121delFs
c.360_363del4
21 papers
NM_000035.4
p.R60*
c.178C>T
15 papers
NM_000035.4
p.Y204*
c.612T>A
13 papers
NM_000035.4
p.Y204*
c.612T>G
11 papers
NM_000035.4
p.E207Q
c.619G>C
10 papers
NM_000035.4
p.L257P
c.770T>C
9 papers
NM_000035.4
p.R304Q
c.911G>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."