Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.P246A

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.P246A
c.736C>G
Surrounding Variants
1 paper
NM_000035.4
p.P246Q
c.737C>A
1 paper
NM_000035.4
p.Q248*
c.742C>T
1 paper
NM_000035.4
p.K243_Y244insFs
c.729_730insTT
1 paper
NM_000035.4
p.A250T
c.748G>A
6 papers
NM_000035.4
p.C240*
c.720C>A
2 papers
NM_000035.4
p.T253insFs
c.758_759insT
1 paper
NM_000035.4
p.H238insFs
c.712_713insC
3 papers
NM_000035.4
p.V254insFs
c.761dupT
1 paper
NM_000035.4
p.T255fs
c.763_764fs
10 papers
NM_000035.4
p.L257P
c.770T>C
1 paper
NM_000035.4
p.M233K
c.698T>A
1 paper
NM_000035.4
p.R259S
c.775C>A
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