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

1 paper

NM_001191057.4

p.K608N

c.1824A>C

Surrounding Variants

1 paper

NM_001191057.4

p.K608N

c.1824A>T

1 paper

NM_001191057.4

p.D618E

c.1854T>G

1 paper

NM_001191057.4

p.D618E

c.1854T>A

1 paper

NM_001191057.4

p.E595K

c.1783G>A

1 paper

NM_001191057.4

p.A594_E595insFs

c.1782_1783insT

3 papers

NM_001191057.4

p.S592A

c.1774T>G

1 paper

NM_001191057.4

p.N591_S592delins

c.1773_1774delinsTG

1 paper

NM_001191057.4

p.V576L

c.1726G>C

1 paper

NM_001191057.4

p.A560delins

c.1679_1680delinsTT

1 paper

NM_001191057.4

p.A552S

c.1654G>T

1 paper

NM_001191057.4

p.E549K

c.1645G>A

1 paper

NM_001191057.4

p.R540L

c.1619G>T