Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.A280P

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
2 papers
NM_000035.4
p.A280P
c.838G>C
Surrounding Variants
4 papers
NM_000035.4
p.A280D
c.839C>A
6 papers
NM_000035.4
p.T281delFs
c.841_842delGT
1 paper
NM_000035.4
p.L284F
c.850C>T
5 papers
NM_000035.4
p.L284P
c.851T>C
1 paper
NM_000035.4
p.L284_N285delFs
c.852_855del4
1 paper
NM_000035.4
p.L271delFs
c.812delA
1 paper
NM_000035.4
p.N288K
c.864C>G
1 paper
NM_000035.4
p.N288K
c.864C>A
2 papers
NM_000035.4
p.L289fs
c.865_866fs
7 papers
NM_000035.4
p.L289delFs
c.865delG
3 papers
NM_000035.4
p.L289_C290delins
c.865_868delinsT
1 paper
NM_000035.4
p.C290W
c.870C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."