Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.R304Q

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
9 papers
NM_000035.4
p.R304Q
c.911G>A
Surrounding Variants
7 papers
NM_000035.4
p.R304W
c.910C>T
1 paper
NM_000035.4
p.G303R
c.907G>C
1 paper
NM_000035.4
p.G303R
c.907G>A
1 paper
NM_000035.4
p.Q307K
c.919C>A
1 paper
NM_000035.4
p.A308_S309delFs
c.922_925del4
4 papers
NM_000035.4
p.L311P
c.932T>C
2 papers
NM_000035.4
p.W296*
c.888G>A
2 papers
NM_000035.4
p.W296*
c.887G>A
1 paper
NM_000035.4
p.W314_G315ins12
c.940_944ins36
2 papers
NM_000035.4
p.W314insFs
c.940dupT
1 paper
NM_000035.4
p.W314*
c.941G>A
1 paper
NM_000035.4
p.G315delFs
c.944delC
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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."