Varaico: Literature-Extracted Genetic Variants

Gene:PDE7B
Variant:p.M239I

PDE7B

52 papers

RefSeq Summary

The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of...

Pfam Domains

PDEase_Iaa 172–404UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 7B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018945.4
p.M239I
c.717G>C
Surrounding Variants
1 paper
NM_018945.4
p.M239I
c.717G>A
1 paper
NM_018945.4
p.M239I
c.717G>T
1 paper
NM_018945.4
p.H245Y
c.733C>T
1 paper
NM_018945.4
p.S249T
c.745T>A
1 paper
NM_018945.4
p.R258S
c.774G>C
1 paper
NM_018945.4
p.F290L
c.868T>C
1 paper
NM_018945.4
p.K295R
c.884A>G
1 paper
NM_018945.4
p.H297Y
c.889C>T
1 paper
NM_018945.4
p.E332G
c.995A>G
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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."