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

1–12 of 147 variants

17 papers

NM_003719.5

p.H305P

c.914A>C

7 papers

NM_003719.5

p.M1V

c.1A>G

6 papers

NM_003719.5

p.H305L

c.914A>T

4 papers

NM_003719.5

p.V32L

c.94G>C

4 papers

NM_003719.5

p.V32delFs

c.95delT

4 papers

NM_003719.5

p.E102*

c.304G>T

3 papers

NM_003719.5

p.R121H

c.362G>A

3 papers

NM_003719.5

p.P660L

c.1979C>T

2 papers

NM_003719.5

p.R27delFs

c.79delC

2 papers

NM_003719.5

p.Q28*

c.82C>T

2 papers

NM_003719.5

p.V32fs

c.94_95fs

2 papers

NM_003719.5

p.P131delFs

c.392delC