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

1–12 of 283 variants

7 papers

NM_001104631.2

p.A227S

c.679G>T

6 papers

NM_001104631.2

p.S190A

c.568T>G

6 papers

NM_001104631.2

p.Q228E

c.682C>G

6 papers

NM_001104631.2

p.E590A

c.1769A>C

6 papers

NM_001104631.2

p.G673D

c.2018G>A

5 papers

NM_001104631.2

p.L230S

c.689T>C

4 papers

NM_001104631.2

p.T224I

c.671C>T

4 papers

NM_001104631.2

p.F226S

c.677T>C

4 papers

NM_001104631.2

p.L312V

c.934C>G

4 papers

NM_001104631.2

p.I678T

c.2033T>C

3 papers

NM_001104631.2

p.P29P

c.87C>T

3 papers

NM_001104631.2

p.A90T

c.268G>A