Varaico: Literature-Extracted Genetic Variants

Gene:PDE9A

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
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
2 papers
NM_002606.3
p.F519C
c.1556T>G
1 paper
NM_002606.3
p.M1V
c.1A>G
1 paper
NM_002606.3
p.K11R
c.32A>G
1 paper
NM_002606.3
p.F26L
c.78C>A
1 paper
NM_002606.3
p.M36V
c.106A>G
1 paper
NM_002606.3
p.M67delFs
c.199_200delAT
1 paper
NM_002606.3
p.A69V
c.206C>T
1 paper
NM_002606.3
p.R73Splc
c.219-28C>G
1 paper
NM_002606.3
p.P80fs
c.238_239fs
1 paper
NM_002606.3
p.S87S
c.261C>T
1 paper
NM_002606.3
p.R98H
c.293G>A
1 paper
NM_002606.3
p.E115K
c.343G>A
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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."