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

7 papers

NM_001104631.2

p.G673D

c.2018G>A

NM_001165899.2

p.G612D

c.1835G>A

Surrounding Variants

1 paper

NM_001104631.2

p.F674L

c.2020T>C

1 paper

NM_001104631.2

p.F674L

c.2022C>G

1 paper

NM_001104631.2

p.F674L

c.2022C>A

3 papers

NM_001104631.2

p.Y677D

c.2029T>G

1 paper

NM_001104631.2

p.Y677S

c.2030A>C

5 papers

NM_001104631.2

p.I678T

c.2033T>C

NM_001165899.2

p.I617T

c.1850T>C

1 paper

NM_001104631.2

p.E684G

c.2051A>G

1 paper

NM_001104631.2

p.D696H

c.2086G>C

1 paper

NM_001104631.2

p.D696_D699del0

c.2088_2096del9

1 paper

NM_001104631.2

p.R705fs

c.2113_2114fs

1 paper

NM_001104631.2

p.R705_I712delFs

c.2114_2136del23

1 paper

NM_001104631.2

p.E737K

c.2209G>A