Varaico: Literature-Extracted Genetic Variants

Gene:PDE3A
Variant:p.L186P

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.L186P
c.557T>C
Surrounding Variants
1 paper
NM_000921.5
p.V180D
c.539T>A
2 papers
NM_000921.5
p.V193A
c.578T>C
1 paper
NM_000921.5
p.Q175R
c.524A>G
1 paper
NM_000921.5
p.Q175fs
c.523_524fs
1 paper
NM_000921.5
p.A201T
c.601G>A
1 paper
NM_000921.5
p.G169W
c.505G>T
1 paper
NM_000921.5
p.L204L
c.610C>T
1 paper
NM_000921.5
p.L206P
c.617T>C
1 paper
NM_000921.5
p.A162V
c.485C>T
1 paper
NM_000921.5
p.L213L
c.639C>T
1 paper
NM_000921.5
p.M214V
c.640A>G
1 paper
NM_000921.5
p.P158L
c.473C>T
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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."