Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.K140_D141delFs

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.K140_D141delFs
c.419_422del4
Surrounding Variants
2 papers
NM_000035.4
p.K140delFs
c.419delT
1 paper
NM_000035.4
p.K140fs
c.418_419fs
1 paper
NM_000035.4
p.G146W
c.436G>T
5 papers
NM_000035.4
p.W148R
c.442T>C
5 papers
NM_000035.4
p.W148R
c.442T>A
5 papers
NM_000035.4
p.C135R
c.403T>C
5 papers
NM_000035.4
p.W148*
c.443G>A
8 papers
NM_000035.4
p.W148*
c.444G>A
2 papers
NM_000035.4
p.R134H
c.401G>A
3 papers
NM_000035.4
p.R134S
c.400C>A
78 papers
NM_000035.4
p.A150P
c.448G>C
1 paper
NM_000035.4
p.V151M
c.451G>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."