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.E16V

c.47A>T

Surrounding Variants

1 paper

NM_001104631.2

p.G15E

c.44G>A

1 paper

NM_001104631.2

p.S14S

c.42C>T

1 paper

NM_001104631.2

p.S14N

c.41G>A

1 paper

NM_001104631.2

p.S14fs

c.40_41fs

1 paper

NM_001104631.2

p.S14insFs

c.40_41insT

1 paper

NM_001104631.2

p.S20N

c.59G>A

1 paper

NM_001104631.2

p.A12P

c.34G>C

1 paper

NM_001104631.2

p.A21_G22insT

c.61_65ins3

1 paper

NM_001104631.2

p.R11Q

c.32G>A

1 paper

NM_001104631.2

p.R11W

c.31C>T

1 paper

NM_001104631.2

p.G22S

c.64G>A

1 paper

NM_001104631.2

p.A10V

c.29C>T