Varaico: Literature-Extracted Genetic Variants

Gene:PDE4D
Variant:p.R103H

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.R103H
c.308G>A
Surrounding Variants
1 paper
NM_001104631.2
p.G102G
c.306C>G
1 paper
NM_001104631.2
p.G102A
c.305G>C
1 paper
NM_001104631.2
p.A100S
c.298G>T
1 paper
NM_001104631.2
p.R107H
c.320G>A
1 paper
NM_001104631.2
p.A91S
c.271G>T
3 papers
NM_001104631.2
p.A90T
c.268G>A
1 paper
NM_001104631.2
p.R119H
c.356G>A
1 paper
NM_001104631.2
p.P87L
c.260C>T
1 paper
NM_001104631.2
p.P86L
c.257C>T
1 paper
NM_001104631.2
p.A120A
c.360C>T
1 paper
NM_001104631.2
p.P85S
c.253C>T
1 paper
NM_001104631.2
p.M121delFs
c.363delC
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