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.T595P

c.1783A>C

Surrounding Variants

1 paper

NM_001104631.2

p.K592Q

c.1774A>C

1 paper

NM_001104631.2

p.T591N

c.1772C>A

1 paper

NM_001104631.2

p.E590G

c.1769A>G

7 papers

NM_001104631.2

p.E590A

c.1769A>C

NM_006203.5

p.E454A

c.1361A>C

NM_001165899.2

p.E529A

c.1586A>C

1 paper

NM_001104631.2

p.L602ins1

c.1804_1805insAAT

1 paper

NM_001104631.2

p.M588V

c.1762A>G

4 papers

NM_001104631.2

p.T587A

c.1759A>G

NM_001165899.2

p.T526A

c.1576A>G

4 papers

NM_001104631.2

p.T587P

c.1759A>C

NM_001165899.2

p.T526P

c.1576A>C

1 paper

NM_001104631.2

p.Y605H

c.1813T>C

1 paper

NM_006203.5

p.D448N

c.1342G>A

1 paper

NM_001104631.2

p.L581L

c.1741C>T

1 paper

NM_001104631.2

p.M615I

c.1845G>T