Varaico: Literature-Extracted Genetic Variants

Gene:ALDOA
Variant:p.T51A

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.T51A
c.151A>G
Surrounding Variants
1 paper
NM_001243177.4
p.T52T
c.156C>T
1 paper
NM_001243177.4
p.Q58insFs
c.173_174insA
1 paper
NM_001243177.4
p.I73V
c.217A>G
1 paper
NM_001243177.4
p.I73I
c.219C>A
1 paper
NM_001243177.4
p.H75insFs
c.223_224insGA
2 papers
NM_001243177.4
p.K47_E48Splc
c.141+1G>A
1 paper
NM_001243177.4
p.G92E
c.275G>A
1 paper
NM_001243177.4
p.E44delFs
c.131_132delAG
1 paper
NM_001243177.4
p.R97W
c.289C>T
1 paper
NM_001243177.4
p.R97Q
c.290G>A
2 papers
NM_001243177.4
p.S100A
c.298T>G
1 paper
NM_001243177.4
p.S100F
c.299C>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."