Varaico: Literature-Extracted Genetic Variants

PDE1C

91 papers

RefSeq Summary

This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate an...

Pfam Domains

PDEase_I_Naa 82–142UCSC3'5'-cyclic nucleotide phosphodiesterase N-terminal

PDEase_Iaa 227–457UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 1C

HGNC Alias Symbol

Hcam3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001191057.4

p.S505G

c.1513A>G

Surrounding Variants

1 paper

NM_001191057.4

p.V501A

c.1502T>C

1 paper

NM_001191057.4

p.S500F

c.1499C>T

1 paper

NM_001191057.4

p.W510R

c.1528T>C

1 paper

NM_001191057.4

p.W510R

c.1528T>A

1 paper

NM_001191057.4

p.W510*

c.1529G>A

1 paper

NM_001191057.4

p.W510*

c.1530G>A

1 paper

NM_001191057.4

p.V498V

c.1494C>T

1 paper

NM_001191057.4

p.S497Y

c.1490C>A

1 paper

NM_001191057.4

p.A492V

c.1475C>T

1 paper

NM_001191057.4

p.W521C

c.1563G>T

1 paper

NM_001191057.4

p.W521C

c.1563G>C

1 paper

NM_001191057.4

p.R522K

c.1565G>A