Varaico: Literature-Extracted Genetic Variants

Gene:PDE4A
Variant:p.L14L

PDE4A

82 papers

RefSeq Summary

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator ...

Pfam Domains

PDE4_UCRaa 178–293UCSCPhosphodiesterase 4 upstream conserved regions (UCR)
PDE4_UCRaa 178–293UCSCPhosphodiesterase 4 upstream conserved regions (UCR)
PDEase_Iaa 432–672UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 4A

HGNC Previous Symbol

DPDE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001111307.2
p.L14L
c.40C>T
Surrounding Variants
1 paper
NM_001111307.2
p.S13F
c.38C>T
1 paper
NM_001111307.2
p.M1V
c.1A>G
1 paper
NM_001111307.2
p.I43I
c.129C>T
1 paper
NM_001111307.2
p.R54L
c.161G>T
1 paper
NM_001111307.2
p.A55G
c.164C>G
1 paper
NM_001111307.2
p.E56D
c.168G>C
2 papers
NM_001111307.2
p.R57W
c.169C>T
1 paper
NM_001111307.2
p.A70V
c.209C>T
1 paper
NM_001111307.2
p.D72_T73insFs
c.216_217insA
1 paper
NM_001111307.2
p.H91Y
c.271C>T
1 paper
NM_001111307.2
p.S97R
c.291C>G
1 paper
NM_001111307.2
p.G101G
c.303C>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."