Varaico: Literature-Extracted Genetic Variants

Gene:PDE7A

PDE7A

46 papers

RefSeq Summary

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator ...

Pfam Domains

PDEase_Iaa 211–444UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 7A

HGNC Alias Symbol

HCP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
3 papers
NM_001242318.3
p.G76E
c.227G>A
2 papers
NM_001242318.3
p.R91C
c.271C>T
2 papers
NM_001242318.3
p.Y329S
c.986A>C
2 papers
NM_001242318.3
p.R456K
c.1367G>A
1 paper
NM_001242318.3
p.M1V
c.1A>G
1 paper
NM_001242318.3
p.S30N
c.89G>A
1 paper
NM_001242318.3
p.S31C
c.92C>G
1 paper
NM_001242318.3
p.L44R
c.131T>G
1 paper
NM_001242318.3
p.R48H
c.143G>A
1 paper
NM_001242318.3
p.R64H
c.191G>A
1 paper
NM_001242318.3
p.S113T
c.338G>C
1 paper
NM_001242318.3
p.R116P
c.347G>C
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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."