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.E737K

c.2209G>A

Surrounding Variants

1 paper

NM_001104631.2

p.L738V

c.2212C>G

1 paper

NM_001104631.2

p.G744C

c.2230G>T

1 paper

NM_001104631.2

p.G753D

c.2258G>A

1 paper

NM_001104631.2

p.V756A

c.2267T>C

1 paper

NM_001104631.2

p.E757*

c.2269G>T

1 paper

NM_001104631.2

p.R705_I712delFs

c.2114_2136del23

1 paper

NM_001104631.2

p.C769fs

c.2305_2306fs

1 paper

NM_001104631.2

p.R705fs

c.2113_2114fs

1 paper

NM_001104631.2

p.L768_C769insFs

c.2302_2305dup4

1 paper

NM_001104631.2

p.D696_D699del0

c.2088_2096del9

1 paper

NM_001104631.2

p.D696H

c.2086G>C

1 paper

NM_001104631.2

p.E782*

c.2344G>T