Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.P115S

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.P115S
c.343C>T
Surrounding Variants
5 papers
NM_000035.4
p.Q111*
c.331C>T
8 papers
NM_000035.4
p.N120fs
c.358_359fs
2 papers
NM_000035.4
p.N120fs
c.358_359fs
5 papers
NM_000035.4
p.K108_L109Splc
c.325-1G>C
4 papers
NM_000035.4
p.K108_L109Splc
c.325-1G>A
23 papers
NM_000035.4
p.N120_K121delFs
c.360_363del4
1 paper
NM_000035.4
p.K108_L109Splc
c.325-3C>G
1 paper
NM_000035.4
p.N120_E122delFs
c.360_364del5
4 papers
NM_000035.4
p.P115_T124delFs
c.345_372del28
1 paper
NM_000035.4
p.T124_I125delFs
c.370_373del4
1 paper
NM_000035.4
p.L116_I125delFs
c.348_373del26
1 paper
NM_000035.4
p.G127Splc
c.379+1G>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."