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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNPDA2

GNPDA2

27 papers

RefSeq Summary

The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene h...

Pfam Domains

Glucosamine_isoaa 7–237UCSCGlucosamine-6-phosphate isomerases/6-phosphogluconolactonase

Gene Aliases

HGNC Name

glucosamine-6-phosphate deaminase 2

HGNC Alias Symbol

SB52

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr4:44722167 T>G

NM_138335.3

p.E14A

c.41A>C

Glucosamine_iso

exact variant not in gnomAD65 overlapping SVs

1 paper

chr4:44722141 G>A

NM_138335.3

p.R23C

c.67C>T

Glucosamine_iso

Exome: 0.2% (AC=2460, hom=35)Genome: 0.3% (AC=475, hom=7)65 overlapping SVs

1 paper

chr4:44722132 G>C

NM_138335.3

p.Q26E

c.76C>G

Glucosamine_iso

exact variant not in gnomAD65 overlapping SVs

1 paper

chr4:44718285 T>G

NM_138335.3

p.G76Splc

c.226+24A>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a67 overlapping SVs

1 paper

chr4:44717227 T>C

NM_138335.3

p.I99V

c.295A>G

Glucosamine_iso

exact variant not in gnomAD67 overlapping SVs

1 paper

chr4:44711100 A>G

NM_138335.3

p.P149P

c.447T>C

Glucosamine_iso

Exome: 0.0% (AC=0, hom=0)Genome: n/a66 overlapping SVs

1 paper

chr4:44710839 T>A

NM_138335.3

p.E198_V199Splc

c.594+114A>T

exact variant not in gnomAD67 overlapping SVs

1 paper

chr4:44707860 T>C

NM_138335.3

p.N221D

c.661A>G

Glucosamine_iso

Exome: 0.0% (AC=1, hom=0)Genome: n/a66 overlapping SVs

1 paper

chr4:44707687 A>G

NM_138335.3

p.G257Splc

c.769+65T>C

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)66 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."