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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDOC

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 29 variants

3 papers

chr17:28575241 C>T

NM_005165.3

p.R69H

c.206G>A

Glycolytic

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=3, hom=0)6 overlapping SVs

2 papers

chr17:28574988 G>C

NM_005165.3

p.P115A

c.343C>G

Glycolytic

Exome: 0.0% (AC=664, hom=0)Genome: 0.0% (AC=36, hom=0)6 overlapping SVs

1 paper

chr17:28575495 T>G

NM_005165.3

p.K13T

c.38A>C

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:28575494 C>T

NM_005165.3

p.K13K

c.39G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:28575468 C>T

NM_005165.3

p.R22Q

c.65G>A

Glycolytic

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr17:28575453 C>A

NM_005165.3

p.G27V

c.80G>T

Glycolytic

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:28575305 C>G

NM_005165.3

p.G48R

c.142G>C

Glycolytic

Exome: n/aGenome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr17:28575305 C>T

NM_005165.3

p.G48R

c.142G>A

Glycolytic

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:28575301 A>T

NM_005165.3

p.V49E

c.146T>A

Glycolytic

Exome: 0.0% (AC=3, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:28575275 G>A

NM_005165.3

p.L58L

c.172C>T

Glycolytic

Exome: 0.0% (AC=5, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:28575242 G>A

NM_005165.3

p.R69C

c.205C>T

Glycolytic

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=4, hom=0)6 overlapping SVs

1 paper

chr17:28575218 C>T

NM_005165.3

p.V77I

c.229G>A

Glycolytic

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=4, hom=0)6 overlapping SVs

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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."