Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.E322*

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.E322*
c.964G>T
Surrounding Variants
1 paper
NM_000035.4
p.A319V
c.956C>T
1 paper
NM_000035.4
p.G315delFs
c.944delC
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.W314_G315ins12
c.940_944ins36
3 papers
NM_000035.4
p.R331L
c.992G>T
4 papers
NM_000035.4
p.L311P
c.932T>C
2 papers
NM_000035.4
p.A318_A332del0
c.953_994del42
1 paper
NM_000035.4
p.A308_S309delFs
c.922_925del4
1 paper
NM_000035.4
p.Q307K
c.919C>A
9 papers
NM_000035.4
p.R304Q
c.911G>A
7 papers
NM_000035.4
p.R304W
c.910C>T
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