Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE4B

Variant:p.P125P

PDE4B

105 papers

RefSeq Summary

This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and ...

Pfam Domains

PDE4_UCRaa 166–281UCSCPhosphodiesterase 4 upstream conserved regions (UCR)

PDEase_Iaa 405–645UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 4B

HGNC Previous Symbol

DPDE4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:66247553 T>A

NM_002600.4

p.P125P

c.375T>A

exact variant not in gnomAD214 overlapping SVs

Surrounding Variants

1 paper

chr1:66247536 C>A

NM_002600.4

p.L120I

c.358C>A

exact variant not in gnomAD214 overlapping SVs

4 papers

chr1:66247513 C>G

NM_002600.4

p.A112G

c.335C>G

Exome: 1.8% (AC=26652, hom=314)Genome: 1.6% (AC=2465, hom=28)214 overlapping SVs

1 paper

chr1:66247596 AGC>A

NM_002600.4

p.S140_D141delFs

c.420_421delCG

exact variant not in gnomAD214 overlapping SVs

1 paper

chr1:66247492 G>A

NM_002600.4

p.R105Q

c.314G>A

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=7, hom=0)214 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."