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.D353delFs

c.1059delC

Surrounding Variants

1 paper

NM_003719.5

p.D353fs

c.1057_1058fs

1 paper

NM_003719.5

p.Q356K

c.1066C>A

1 paper

NM_003719.5

p.Q357*

c.1069C>T

1 paper

NM_003719.5

p.H358insFs

c.1073dupA

1 paper

NM_003719.5

p.V359delFs

c.1076delT

1 paper

NM_003719.5

p.V359fs

c.1075_1076fs

1 paper

NM_003719.5

p.V344I

c.1030G>A

1 paper

NM_003719.5

p.V344_S354insFs

c.1031_1061dup31

1 paper

NM_003719.5

p.C334R

c.1000T>C

1 paper

NM_003719.5

p.I331T

c.992T>C

1 paper

NM_003719.5

p.D329Y

c.985G>T

1 paper

NM_003719.5

p.R324Q

c.971G>A