Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.Q203Q

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.Q203Q
c.609G>A
Surrounding Variants
13 papers
NM_000035.4
p.Y204*
c.612T>G
15 papers
NM_000035.4
p.Y204*
c.612T>A
11 papers
NM_000035.4
p.E207Q
c.619G>C
1 paper
NM_000035.4
p.D194N
c.580G>A
1 paper
NM_000035.4
p.E188G
c.563A>G
4 papers
NM_000035.4
p.P185R
c.554C>G
2 papers
NM_000035.4
p.L183_P185del0
c.548_553del6
1 paper
NM_000035.4
p.L183_V184delFs
c.548_552del5
2 papers
NM_000035.4
p.L183P
c.548T>C
1 paper
NM_000035.4
p.G182delFs
c.546delT
1 paper
NM_000035.4
p.N181K
c.543T>G
1 paper
NM_000035.4
p.N181K
c.543T>A
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