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.A799G

c.2396C>G

Surrounding Variants

1 paper

NM_001104631.2

p.E798_C800insFs

c.2393_2399dup7

1 paper

NM_001104631.2

p.C800*

c.2400T>A

2 papers

NM_001104631.2

p.V801I

c.2401G>A

1 paper

NM_001104631.2

p.I802V

c.2404A>G

1 paper

NM_001104631.2

p.D804fs

c.2410_2411fs

2 papers

NM_001104631.2

p.C800_D804insFs

c.2400_2410dup11

1 paper

NM_001104631.2

p.E792D

c.2376A>C

1 paper

NM_001104631.2

p.E792*

c.2374G>T

1 paper

NM_001104631.2

p.E782D

c.2346A>T

1 paper

NM_001104631.2

p.E782*

c.2344G>T

1 paper

NM_001104631.2

p.L768_C769insFs

c.2302_2305dup4

1 paper

NM_001104631.2

p.C769fs

c.2305_2306fs