Varaico: Literature-Extracted Genetic Variants

Gene:PDE9A
Variant:p.K245_Y246Splc

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
1 paper
NM_002606.3
p.K245_Y246Splc
c.735+8G>T
Surrounding Variants
1 paper
NM_002606.3
p.T242A
c.724A>G
1 paper
NM_002606.3
p.V263I
c.787G>A
1 paper
NM_002606.3
p.E199_K200del2
c.595_599del6
1 paper
NM_002606.3
p.E191K
c.571G>A
1 paper
NM_002606.3
p.D304N
c.910G>A
1 paper
NM_002606.3
p.R307*
c.919A>T
1 paper
NM_002606.3
p.P310T
c.928C>A
1 paper
NM_002606.3
p.L343R
c.1028T>G
1 paper
NM_002606.3
p.M346_L354del9
c.1036_1061del27
1 paper
NM_002606.3
p.H356R
c.1067A>G
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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."