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.S190A

c.568T>G

NM_006203.5

p.S54A

c.160T>G

NM_001165899.2

p.S129A

c.385T>G

Surrounding Variants

1 paper

NM_001104631.2

p.S190P

c.568T>C

3 papers

NM_001104631.2

p.S190F

c.569C>T

NM_006203.5

p.S54F

c.161C>T

1 paper

NM_001165899.2

p.F130L

c.388T>C

1 paper

NM_001165899.2

p.F130L

c.390C>G

1 paper

NM_001165899.2

p.F130L

c.390C>A

1 paper

NM_001104631.2

p.S190_F191delFs

c.568_571del4

1 paper

NM_001104631.2

p.R187*

c.559C>T

1 paper

NM_001104631.2

p.R194*

c.580C>T

1 paper

NM_001104631.2

p.R194P

c.581G>C

1 paper

NM_001104631.2

p.S197fs

c.589_590fs

1 paper

NM_001104631.2

p.F182L

c.546T>A

1 paper

NM_001104631.2

p.S197delFs

c.589delT