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.E22K

c.64G>A

Surrounding Variants

1 paper

NM_003719.5

p.D21H

c.61G>C

1 paper

NM_003719.5

p.D21delFs

c.61delG

1 paper

NM_003719.5

p.S25_G35del11

c.73_104del33

2 papers

NM_003719.5

p.R27delFs

c.79delC

1 paper

NM_003719.5

p.R18R

c.52C>A

1 paper

NM_003719.5

p.R27fs

c.79_80fs

2 papers

NM_003719.5

p.Q28*

c.82C>T

1 paper

NM_003719.5

p.T30delFs

c.90delC

1 paper

NM_003719.5

p.V14_I15del2

c.40_44del6

4 papers

NM_003719.5

p.V32L

c.94G>C

4 papers

NM_003719.5

p.V32delFs

c.95delT

2 papers

NM_003719.5

p.V32fs

c.94_95fs