Varaico: Literature-Extracted Genetic Variants

Gene:PDE3A
Variant:p.V285L

PDE3A

166 papers

RefSeq Summary

This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes ...

Pfam Domains

PDEase_Iaa 751–1020UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 3A

HGNC Alias Symbol

CGI-PDE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000921.5
p.V285L
c.853G>T
Surrounding Variants
1 paper
NM_000921.5
p.V285L
c.853G>C
1 paper
NM_000921.5
p.I283M
c.849C>G
1 paper
NM_000921.5
p.D282V
c.845A>T
3 papers
NM_000921.5
p.L275L
c.825G>A
1 paper
NM_000921.5
p.G272E
c.815G>A
1 paper
NM_000921.5
p.E299V
c.896A>T
1 paper
NM_000921.5
p.H270Q
c.810T>A
1 paper
NM_000921.5
p.A263E
c.788C>A
1 paper
NM_000921.5
p.P314P
c.942C>A
1 paper
NM_000921.5
p.Y254C
c.761A>G
1 paper
NM_000921.5
p.E319*
c.955G>T
1 paper
NM_000921.5
p.L250P
c.749T>C
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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."