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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE3B

Variant:p.S493T

PDE3B

11p15.2 (UCSC)OMIM GTEx

85 papers

Pfam Domains

PDEase_Iaa 736–1007UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 3B

HGNC Alias Symbol

HcGIP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:14804005 T>A

NM_000922.4

p.S493T

c.1477T>A

Exome: 0.0% (AC=25, hom=0)Genome: n/a12 overlapping SVs

Surrounding Variants

chr11:14803994 C>T

NM_000922.4

p.P489L

c.1466C>T

Exome: 0.0% (AC=83, hom=0)Genome: 0.0% (AC=14, hom=0)12 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."