Varaico: Literature-Extracted Genetic Variants

Gene:PDE4D
Variant:p.P225L

PDE4D

247 papers

RefSeq Summary

This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transd...

Pfam Domains

PDE4_UCRaa 113–229UCSCPhosphodiesterase 4 upstream conserved regions (UCR)
PDE4_UCRaa 223–339UCSCPhosphodiesterase 4 upstream conserved regions (UCR)
PDE4_UCRaa 223–339UCSCPhosphodiesterase 4 upstream conserved regions (UCR)
PDE4_UCRaa 223–339UCSCPhosphodiesterase 4 upstream conserved regions (UCR)
PDEase_Iaa 351–591UCSC3'5'-cyclic nucleotide phosphodiesterase
PDEase_Iaa 461–701UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 4D

HGNC Previous Symbol

DPDE3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001104631.2
p.P225L
c.674C>T
NM_001165899.2
p.P164L
c.491C>T
Surrounding Variants
1 paper
NM_001104631.2
p.P225R
c.674C>G
4 papers
NM_001104631.2
p.P225T
c.673C>A
NM_001165899.2
p.P164T
c.490C>A
4 papers
NM_001104631.2
p.F226V
c.676T>G
NM_001165899.2
p.F165V
c.493T>G
4 papers
NM_001104631.2
p.F226C
c.677T>G
NM_001165899.2
p.F165C
c.494T>G
5 papers
NM_001104631.2
p.F226S
c.677T>C
NM_001165899.2
p.F165S
c.494T>C
5 papers
NM_001104631.2
p.T224I
c.671C>T
NM_001165899.2
p.T163I
c.488C>T
8 papers
NM_001104631.2
p.A227S
c.679G>T
NM_006203.5
p.A91S
c.271G>T
NM_001165899.2
p.A166S
c.496G>T
1 paper
NM_001104631.2
p.A227T
c.679G>A
7 papers
NM_001104631.2
p.Q228E
c.682C>G
NM_001165899.2
p.Q167E
c.499C>G
4 papers
NM_001104631.2
p.Q228P
c.683A>C
NM_001165899.2
p.Q167P
c.500A>C
1 paper
NM_001104631.2
p.D220G
c.659A>G
6 papers
NM_001104631.2
p.L230S
c.689T>C
NM_001165899.2
p.L169S
c.506T>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."