Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.G75R

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.G75R
c.223G>C
Surrounding Variants
1 paper
NM_000035.4
p.G75R
c.223G>A
5 papers
NM_000035.4
p.I74T
c.221T>C
1 paper
NM_000035.4
p.G76S
c.226G>A
1 paper
NM_000035.4
p.I70N
c.209T>A
6 papers
NM_000035.4
p.L84delFs
c.250delG
1 paper
NM_000035.4
p.S65Y
c.194C>A
1 paper
NM_000035.4
p.Y85*
c.255C>G
1 paper
NM_000035.4
p.Y85*
c.255C>A
2 papers
NM_000035.4
p.D88E
c.264C>G
4 papers
NM_000035.4
p.D88E
c.264C>A
21 papers
NM_000035.4
p.R60*
c.178C>T
1 paper
NM_000035.4
p.Q90H
c.270G>T
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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."