Varaico: Literature-Extracted Genetic Variants

Gene:PDE7B
Variant:p.D100H

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.D100H
c.298G>C
Surrounding Variants
1 paper
NM_018945.4
p.L97Q
c.290T>A
1 paper
NM_018945.4
p.H95N
c.283C>A
1 paper
NM_018945.4
p.R86H
c.257G>A
1 paper
NM_018945.4
p.E62K
c.184G>A
1 paper
NM_018945.4
p.G113R
c.337G>A
1 paper
NM_018945.4
p.G113R
c.337G>C
1 paper
NM_018945.4
p.F117L
c.349T>C
1 paper
NM_018945.4
p.F117L
c.351T>A
1 paper
NM_018945.4
p.F117L
c.351T>G
1 paper
NM_018945.4
p.R124H
c.371G>A
1 paper
NM_018945.4
p.S130R
c.388A>C
1 paper
NM_018945.4
p.S130R
c.390C>A
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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."