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

2 papers

NM_001191057.4

p.M371R

c.1112T>G

Surrounding Variants

1 paper

NM_001191057.4

p.S369A

c.1105T>G

2 papers

NM_001191057.4

p.R389H

c.1166G>A

1 paper

NM_001191057.4

p.M392L

c.1174A>T

1 paper

NM_001191057.4

p.M392L

c.1174A>C

1 paper

NM_001191057.4

p.A361Splc

c.1082+1G>A

1 paper

NM_001191057.4

p.M336K

c.1007T>A

1 paper

NM_001191057.4

p.V333E

c.998T>A

1 paper

NM_001191057.4

p.R330G

c.988C>G

1 paper

NM_001191057.4

p.L408M

c.1222C>A