Varaico: Literature-Extracted Genetic Variants

Gene:PDE1C
Variant:p.K17delFs

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_I_Naa 82–142UCSC3'5'-cyclic nucleotide phosphodiesterase N-terminal
PDEase_Iaa 227–457UCSC3'5'-cyclic nucleotide phosphodiesterase
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.K17delFs
c.50_51delTT
Surrounding Variants
1 paper
NM_001191057.4
p.S15F
c.44C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."