Varaico: Literature-Extracted Genetic Variants

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)

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

2 papers

NM_001104631.2

p.S262S

c.786C>T

Surrounding Variants

1 paper

NM_001104631.2

p.Q260R

c.779A>G

1 paper

NM_001104631.2

p.I268V

c.802A>G

2 papers

NM_001104631.2

p.I268T

c.803T>C

1 paper

NM_001104631.2

p.R249Q

c.746G>A

1 paper

NM_001104631.2

p.D248H

c.742G>C

1 paper

NM_001104631.2

p.R237*

c.709C>T

1 paper

NM_001104631.2

p.R234Q

c.701G>A

1 paper

NM_001104631.2

p.L230F

c.690G>T

6 papers

NM_001104631.2

p.L230S

c.689T>C

NM_001165899.2

p.L169S

c.506T>C