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.P9insFs

c.26_27ins7

Surrounding Variants

1 paper

NM_001104631.2

p.P9_A10insFs

c.27_28insCA

1 paper

NM_001104631.2

p.A10V

c.29C>T

1 paper

NM_001104631.2

p.A8insFs

c.22_23insT

1 paper

NM_001104631.2

p.A8T

c.22G>A

1 paper

NM_001104631.2

p.R11W

c.31C>T

1 paper

NM_001104631.2

p.S7_A8insFs

c.21_22insT

1 paper

NM_001104631.2

p.R11Q

c.32G>A

1 paper

NM_001104631.2

p.S7N

c.20G>A

1 paper

NM_001104631.2

p.S7insFs

c.19_20insTA

1 paper

NM_001104631.2

p.A12P

c.34G>C

1 paper

NM_001104631.2

p.S6R

c.18C>G

1 paper

NM_001104631.2

p.S6R

c.18C>A