Varaico: Literature-Extracted Genetic Variants

Gene:PDE9A
Variant:p.F519C

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
Selected Variant
2 papers
NM_002606.3
p.F519C
c.1556T>G
Surrounding Variants
1 paper
NM_002606.3
p.P500L
c.1499C>T
1 paper
NM_002606.3
p.S488N
c.1463G>A
1 paper
NM_002606.3
p.M534R
c.1601T>G
1 paper
NM_002606.3
p.M560R
c.1679T>G
1 paper
NM_002606.3
p.G590Splc
c.1768+77G>A
1 paper
NM_002606.3
p.I400S
c.1199T>G
1 paper
NM_002606.3
p.V388M
c.1162G>A
1 paper
NM_002606.3
p.E370K
c.1108G>A
1 paper
NM_002606.3
p.H356R
c.1067A>G
1 paper
NM_002606.3
p.M346_L354del9
c.1036_1061del27
1 paper
NM_002606.3
p.L343R
c.1028T>G
1 paper
NM_002606.3
p.P310T
c.928C>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."