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

Selected Variant

1 paper

NM_001363871.4

p.T248K

c.743C>A

Surrounding Variants

1 paper

NM_001363871.4

p.F238S

c.713T>C

1 paper

NM_001363871.4

p.L231delFs

c.692_693delCA

1 paper

NM_001363871.4

p.M219_L220insT

c.655_659ins3