Varaico: Literature-Extracted Genetic Variants

Gene:ALDOA
Variant:p.Q329H

ALDOA

90 papers

RefSeq Summary

This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphat...

Pfam Domains

Glycolyticaa 15–364UCSCFructose-bisphosphate aldolase class-I

Gene Aliases

HGNC Name

aldolase, fructose-bisphosphate A

HGNC Previous Name

aldolase A, fructose-bisphosphate

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001243177.4
p.Q329H
c.987G>C
Surrounding Variants
1 paper
NM_001243177.4
p.A334T
c.1000G>A
2 papers
NM_184041.5
p.A280V
c.839C>T
NM_001243177.4
p.A334V
c.1001C>T
1 paper
NM_001243177.4
p.S335T
c.1003T>A
1 paper
NM_001243177.4
p.N342D
c.1024A>G
2 papers
NM_001243177.4
p.Y356H
c.1066T>C
1 paper
NM_001243177.4
p.G357S
c.1069G>A
1 paper
NM_184041.5
p.R304*
c.910C>T
1 paper
NM_184041.5
p.L311L
c.931C>T
1 paper
NM_001243177.4
p.L311L
c.931C>T
1 paper
NM_001243177.4
p.A310V
c.929C>T
1 paper
NM_001243177.4
p.A306V
c.917C>T
1 paper
NM_001243177.4
p.A304T
c.910G>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."