Varaico: Literature-Extracted Genetic Variants

PDE1A

33 papers

RefSeq Summary

Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective n...

Pfam Domains

PDEase_I_Naa 73–133UCSC3'5'-cyclic nucleotide phosphodiesterase N-terminal

PDEase_Iaa 218–447UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 1A

HGNC Previous Name

phosphodiesterase 1A, calmodulin-dependent

Papers

RefSeq ID

Protein change

DNA change

1–12 of 24 variants

2 papers

NM_001363871.4

p.M1R

c.2T>G

1 paper

NM_001363871.4

p.M1V

c.1A>G

1 paper

NM_001363871.4

p.E27*

c.79G>T

1 paper

NM_001363871.4

p.A43V

c.128C>T

1 paper

NM_001363871.4

p.V73_P74insFs

c.219_220insT

1 paper

NM_001363871.4

p.K99N

c.297A>T

1 paper

NM_001363871.4

p.K99N

c.297A>C

1 paper

NM_001363871.4

p.P100T

c.298C>A

1 paper

NM_001363871.4

p.I105_V115delFs

c.314_344del31

1 paper

NM_001363871.4

p.M219_L220insT

c.655_659ins3

1 paper

NM_001363871.4

p.L231delFs

c.692_693delCA

1 paper

NM_001363871.4

p.F238S

c.713T>C