Varaico: Literature-Extracted Genetic Variants

Gene:PDE7B
Variant:p.T393M

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
2 papers
NM_018945.4
p.T393M
c.1178C>T
Surrounding Variants
1 paper
NM_018945.4
p.E388K
c.1162G>A
1 paper
NM_018945.4
p.Q412delFs
c.1234delC
1 paper
NM_018945.4
p.R419G
c.1255A>G
1 paper
NM_018945.4
p.R424_S427ins1
c.1272_1280dup9
1 paper
NM_018945.4
p.S429R
c.1287C>G
1 paper
NM_018945.4
p.E444D
c.1332G>C
1 paper
NM_018945.4
p.E444D
c.1332G>T
1 paper
NM_018945.4
p.S449R
c.1347C>G
1 paper
NM_018945.4
p.L357P
c.1070T>C
1 paper
NM_018945.4
p.L357V
c.1069C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."