Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.Y214H

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.Y214H
c.640T>C
Surrounding Variants
3 papers
NM_000035.4
p.K208_V209Splc
c.625-1G>T
5 papers
NM_000035.4
p.K208_V209Splc
c.625-1G>A
1 paper
NM_000035.4
p.D219G
c.656A>G
6 papers
NM_000035.4
p.K208_V209Splc
c.625-2A>G
6 papers
NM_000035.4
p.V222F
c.664G>T
5 papers
NM_000035.4
p.E225fs
c.673_674fs
6 papers
NM_000035.4
p.E225Fs
c.673_674delinsAFs
5 papers
NM_000035.4
p.G226D
c.677G>A
1 paper
NM_000035.4
p.L228P
c.683T>C
6 papers
NM_000035.4
p.L229P
c.686T>C
6 papers
NM_000035.4
p.L228_K230ins1
c.683_688dup6
4 papers
NM_000035.4
p.K230delFs
c.689delT
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