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

2 papers

NM_001104631.2

p.I333M

c.999A>G

Surrounding Variants

4 papers

NM_001104631.2

p.I333T

c.998T>C

NM_001165899.2

p.I272T

c.815T>C

1 paper

NM_001104631.2

p.I333V

c.997A>G

2 papers

NM_001104631.2

p.F332S

c.995T>C

1 paper

NM_001104631.2

p.N335fs

c.1003_1004fs

1 paper

NM_001104631.2

p.N335delFs

c.1004delT

1 paper

NM_001104631.2

p.E331K

c.991G>A

4 papers

NM_001104631.2

p.V329A

c.986T>C

NM_001165899.2

p.V268A

c.803T>C

1 paper

NM_001104631.2

p.D339N

c.1015G>A

1 paper

NM_001104631.2

p.Q328R

c.983A>G

1 paper

NM_001104631.2

p.N327S

c.980A>G

1 paper

NM_001104631.2

p.S325delFs

c.974delG

1 paper

NM_001104631.2

p.R324Q

c.971G>A