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

1 paper

NM_001104631.2

p.Q37delFs

c.110delT

Surrounding Variants

2 papers

NM_001104631.2

p.Q37K

c.109C>A

1 paper

NM_001104631.2

p.Q40*

c.118C>T

1 paper

NM_001104631.2

p.Q40E

c.118C>G

1 paper

NM_001104631.2

p.Q40_Y41insT

c.118_122ins3

1 paper

NM_001104631.2

p.P42Q

c.125C>A

3 papers

NM_001104631.2

p.P29P

c.87C>T

1 paper

NM_001104631.2

p.P46T

c.136C>A

1 paper

NM_001104631.2

p.P29S

c.85C>T

1 paper

NM_001104631.2

p.P46R

c.137C>G

2 papers

NM_001104631.2

p.A28V

c.83C>T

1 paper

NM_001104631.2

p.Q47*

c.139C>T

2 papers

NM_001104631.2

p.L50V

c.148C>G