Varaico: Literature-Extracted Genetic Variants

Gene:ALDOC
Variant:p.H81Q

ALDOC

42 papers

RefSeq Summary

This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzy...

Pfam Domains

Glycolyticaa 15–364UCSCFructose-bisphosphate aldolase class-I

Gene Aliases

HGNC Name

aldolase, fructose-bisphosphate C

HGNC Previous Name

aldolase C, fructose-bisphosphate

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005165.3
p.H81Q
c.243T>A
Surrounding Variants
1 paper
NM_005165.3
p.H81Q
c.243T>G
1 paper
NM_005165.3
p.V77I
c.229G>A
3 papers
NM_005165.3
p.R69H
c.206G>A
1 paper
NM_005165.3
p.R69C
c.205C>T
1 paper
NM_005165.3
p.L58L
c.172C>T
1 paper
NM_005165.3
p.G106D
c.317G>A
1 paper
NM_005165.3
p.V49E
c.146T>A
1 paper
NM_005165.3
p.G48R
c.142G>C
1 paper
NM_005165.3
p.G48R
c.142G>A
1 paper
NM_005165.3
p.V114A
c.341T>C
2 papers
NM_005165.3
p.P115A
c.343C>G
1 paper
NM_005165.3
p.G121R
c.361G>C
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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."