Varaico: Literature-Extracted Genetic Variants

PDE8A

41 papers

RefSeq Summary

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator ...

Pfam Domains

PDE8aa 1–47UCSCPDE8 phosphodiesterase

PDE8A_Naa 71–216UCSCPDE8A-like, N-terminal domain

PASaa 216–325UCSCPAS fold

PDE8_3rdaa 368–432UCSCPhosphodiesterase 8 third domain

Gene Aliases

HGNC Name

phosphodiesterase 8A

HGNC Alias Symbol

HsT19550

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

2 papers

NM_002605.3

p.L55V

c.163C>G

2 papers

NM_002605.3

p.N729S

c.2186A>G

2 papers

NM_002605.3

p.P730L

c.2189C>T

2 papers

NM_002605.3

p.Y748F

c.2243A>T

1 paper

NM_002605.3

p.P24L

c.71C>T

1 paper

NM_002605.3

p.L26P

c.77T>C

1 paper

NM_002605.3

p.V63L

c.187G>C

1 paper

NM_002605.3

p.V63L

c.187G>T

1 paper

NM_002605.3

p.D67N

c.199G>A

1 paper

NM_002605.3

p.L80I

c.238C>A

1 paper

NM_002605.3

p.G95E

c.284G>A

1 paper

NM_002605.3

p.D126delFs

c.377delA