Varaico: Literature-Extracted Genetic Variants

PDE8B

120 papers

RefSeq Summary

The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resis...

Pfam Domains

PDE8aa 1–44UCSCPDE8 phosphodiesterase

PDE8A_Naa 1–146UCSCPDE8A-like, N-terminal domain

PAS_9aa 155–259UCSCPAS domain

PAS_9aa 279–383UCSCPAS domain

PDE8_3rdaa 306–368UCSCPhosphodiesterase 8 third domain

PDE8_3rdaa 430–492UCSCPhosphodiesterase 8 third domain

Gene Aliases

HGNC Name

phosphodiesterase 8B

HGNC Alias Name

High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003719.5

p.S672R

c.2016T>G

Surrounding Variants

1 paper

NM_003719.5

p.S672R

c.2016T>A

1 paper

NM_003719.5

p.S672R

c.2014A>C

1 paper

NM_003719.5

p.F666L

c.1998C>A

1 paper

NM_003719.5

p.F666L

c.1998C>G

1 paper

NM_003719.5

p.F666L

c.1996T>C

3 papers

NM_003719.5

p.P660L

c.1979C>T

2 papers

NM_003719.5

p.V697I

c.2089G>A

1 paper

NM_003719.5

p.D641N

c.1921G>A

1 paper

NM_003719.5

p.R710R

c.2130G>A

1 paper

NM_003719.5

p.T715T

c.2145G>A

1 paper

NM_003719.5

p.K731_K745del15

c.2191_2234del45

2 papers

NM_003719.5

p.D755N

c.2263G>A