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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDA

Variant:p.V264M

GDA

61 papers

RefSeq Summary

This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding...

Pfam Domains

Amidohydro_1aa 73–447UCSCAmidohydrolase family

Gene Aliases

HGNC Name

guanine deaminase

HGNC Alias Symbols

CYPIN; GAH

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr9:72225752 G>A

NM_004293.5

p.V264M

c.790G>A

Amidohydro_1

Exome: 1.7% (AC=22518, hom=212)Genome: 1.3% (AC=2026, hom=24)8 overlapping SVs

Surrounding Variants

1 paper

chr9:72225726 ACC>A

NM_004293.5

p.P256delFs

c.767_768delCC

Amidohydro_1

exact variant not in gnomAD8 overlapping SVs

1 paper

chr9:72225681 A>G

NM_004293.5

p.H240R

c.719A>G

Amidohydro_1

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)8 overlapping SVs

1 paper

chr9:72227958 G>C

NM_004293.5

p.G280R

c.838G>C

Amidohydro_1

exact variant not in gnomAD8 overlapping SVs

1 paper

chr9:72227988 G>A

NM_004293.5

p.V290I

c.868G>A

Amidohydro_1

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=6, hom=0)8 overlapping SVs

1 paper

chr9:72219481 T>C

NM_004293.5

p.F194S

c.581T>C

Amidohydro_1

exact variant not in gnomAD8 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."