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.S175S

c.525C>T

Surrounding Variants

1 paper

NM_001191057.4

p.V173I

c.517G>A

1 paper

NM_001191057.4

p.S180fs

c.538_539fs

2 papers

NM_001191057.4

p.S170F

c.509C>T

1 paper

NM_001191057.4

p.D167N

c.499G>A

1 paper

NM_001191057.4

p.R195L

c.584G>T

1 paper

NM_001191057.4

p.L198M

c.592C>A

1 paper

NM_001191057.4

p.V159F

c.475G>T

1 paper

NM_001191057.4

p.R146W

c.436C>T

1 paper

NM_001191057.4

p.A133T

c.397G>A

1 paper

NM_001191057.4

p.E123ins1

c.368_369insACC

1 paper

NM_001191057.4

p.D122_E123ins1

c.366_367insACC

2 papers

NM_001191057.4

p.R112W

c.334C>T