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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNPDA1

GNPDA1

19 papers

RefSeq Summary

Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., ...

Pfam Domains

Glucosamine_isoaa 8–238UCSCGlucosamine-6-phosphate isomerases/6-phosphogluconolactonase

Gene Aliases

HGNC Name

glucosamine-6-phosphate deaminase 1

HGNC Previous Symbol

GNPI

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr5:142011965 A>T

NM_005471.5

p.I24N

c.71T>A

Glucosamine_iso

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142011932 A>C

NM_005471.5

p.F35C

c.104T>G

Glucosamine_iso

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142007862 A>G

NM_005471.5

p.Y55H

c.163T>C

Glucosamine_iso

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142007800 C>T

NM_005471.5

p.V75V

c.225G>A

Glucosamine_iso

Exome: 0.0% (AC=1, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr5:142006219 C>T

NM_005471.5

p.V112I

c.334G>A

Glucosamine_iso

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142006191 A>C

NM_005471.5

p.F121C

c.362T>G

Glucosamine_iso

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142006151 A>G

NM_005471.5

p.F134F

c.402T>C

Glucosamine_iso

exact variant not in gnomAD45 overlapping SVs

1 paper

chr5:142003156 C>T

NM_005471.5

p.R234H

c.701G>A

Glucosamine_iso

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=7, hom=0)45 overlapping SVs

1 paper

chr5:142002115 G>A

NM_005471.5

p.H262Y

c.784C>T

exact variant not in gnomAD46 overlapping SVs

1 paper

chr5:142002083 G>C

NM_005471.5

p.I272M

c.816C>G

exact variant not in gnomAD46 overlapping SVs

1 paper

chr5:142002037 T>A

NM_005471.5

p.S288C

c.862A>T

exact variant not in gnomAD46 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."