Varaico: Literature-Extracted Genetic Variants

Gene:ALDOC
Variant:p.V209A

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.V209A
c.626T>C
Surrounding Variants
1 paper
NM_005165.3
p.C240Y
c.719G>A
1 paper
NM_005165.3
p.R259S
c.775C>A
1 paper
NM_005165.3
p.P262S
c.784C>T
1 paper
NM_005165.3
p.R294*
c.880C>T
1 paper
NM_005165.3
p.Q307*
c.919C>T
1 paper
NM_005165.3
p.N312S
c.935A>G
1 paper
NM_005165.3
p.N167N
c.501C>T
1 paper
NM_005165.3
p.E333_V334Splc
c.999+2T>C
1 paper
NM_005165.3
p.A136D
c.407C>A
1 paper
NM_005165.3
p.K342T
c.1025A>C
1 paper
NM_005165.3
p.G121R
c.361G>C
1 paper
NM_005165.3
p.G121R
c.361G>A
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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."