Varaico: Literature-Extracted Genetic Variants

Gene:PDE3A
Variant:p.L433S

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.L433S
c.1298T>C
Surrounding Variants
1 paper
NM_000921.5
p.P430L
c.1289C>T
1 paper
NM_000921.5
p.S438S
c.1314T>G
1 paper
NM_000921.5
p.R426K
c.1277G>A
9 papers
NM_000921.5
p.T445del1
c.1333_1334delACC
11 papers
NM_000921.5
p.T445A
c.1333A>G
11 papers
NM_000921.5
p.T445S
c.1333A>T
12 papers
NM_000921.5
p.T445N
c.1334C>A
11 papers
NM_000921.5
p.T445S
c.1334C>G
7 papers
NM_000921.5
p.S446P
c.1336T>C
8 papers
NM_000921.5
p.A447T
c.1339G>A
1 paper
NM_000921.5
p.K423_R424Splc
c.1270-14A>C
7 papers
NM_000921.5
p.A447V
c.1340C>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."