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.V67L

c.199G>C

Surrounding Variants

1 paper

NM_003719.5

p.V67F

c.199G>T

1 paper

NM_003719.5

p.E73D

c.219G>C

1 paper

NM_003719.5

p.E73D

c.219G>T

1 paper

NM_003719.5

p.S76C

c.226A>T

1 paper

NM_003719.5

p.S76S

c.228C>T

1 paper

NM_003719.5

p.P54S

c.160C>T

1 paper

NM_003719.5

p.A83P

c.247G>C

1 paper

NM_003719.5

p.L40delFs

c.119delT

1 paper

NM_003719.5

p.S33_Q46del14

c.97_137del42

4 papers

NM_003719.5

p.V32L

c.94G>C

4 papers

NM_003719.5

p.E102*

c.304G>T

4 papers

NM_003719.5

p.V32delFs

c.95delT