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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE9A

Variant:p.G590Splc

PDE9A

36 papers

RefSeq Summary

The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellula...

Pfam Domains

PDEase_Iaa 311–542UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 9A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr21:42772597 G>A

NM_002606.3

p.G590Splc

c.1768+77G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

Surrounding Variants

1 paper

chr21:42770791 T>G

NM_002606.3

p.M560R

c.1679T>G

PDEase_I

Exome: 1.0% (AC=14918, hom=93)Genome: 0.8% (AC=1174, hom=4)12 overlapping SVs

1 paper

chr21:42770713 T>G

NM_002606.3

p.M534R

c.1601T>G

PDEase_I

exact variant not in gnomAD12 overlapping SVs

2 papers

chr21:42769121 T>G

NM_002606.3

p.F519C

c.1556T>G

PDEase_I

exact variant not in gnomAD12 overlapping SVs

1 paper

chr21:42769064 C>T

NM_002606.3

p.P500L

c.1499C>T

PDEase_I

Exome: 0.0% (AC=4, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr21:42769028 G>A

NM_002606.3

p.S488N

c.1463G>A

PDEase_I

exact variant not in gnomAD12 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."