Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.H345H

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.H345H
c.1035C>T
Surrounding Variants
1 paper
NM_000035.4
p.T346_G347insFs
c.1038_1039ins5
4 papers
NM_000035.4
p.Y343H
c.1027T>C
5 papers
NM_000035.4
p.S348_G350Fs
c.1044_1049delinsACACTFs
1 paper
NM_000035.4
p.S348_G350del0
c.1044_1049del6
1 paper
NM_000035.4
p.A339V
c.1016C>T
32 papers
NM_000035.4
p.A338V
c.1013C>T
2 papers
NM_000035.4
p.A338G
c.1013C>G
1 paper
NM_000035.4
p.T354P
c.1060A>C
1 paper
NM_000035.4
p.A334_C336delFs
c.1000_1006del7
1 paper
NM_000035.4
p.C336_Q337insFs
c.1008_1009insTG
1 paper
NM_000035.4
p.A334_N335del0
c.1000_1005del6
31 papers
NM_000035.4
p.N335K
c.1005C>G
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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."