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

1–12 of 92 variants

3 papers

NM_001191057.4

p.S505G

c.1513A>G

3 papers

NM_001191057.4

p.S592A

c.1774T>G

2 papers

NM_001191057.4

p.R43K

c.128G>A

2 papers

NM_001191057.4

p.E66K

c.196G>A

2 papers

NM_001191057.4

p.R112W

c.334C>T

2 papers

NM_001191057.4

p.S170F

c.509C>T

2 papers

NM_001191057.4

p.M371R

c.1112T>G

2 papers

NM_001191057.4

p.R389H

c.1166G>A

2 papers

NM_001191057.4

p.G638S

c.1912G>A

1 paper

NM_001191058.4

p.P79delFs

c.235delG

1 paper

NM_001191057.4

p.S15F

c.44C>T

1 paper

NM_001191057.4

p.K17delFs

c.50_51delTT