The PDGFRA gene homepage

General information
Gene symbol PDGFRA
Gene name platelet-derived growth factor receptor, alpha polypeptide
Chromosome 4
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_009250.1
Transcript reference NM_006206.4
Associated with diseases GIST, HES
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 36
Unique public DNA variants reported 28
Individuals with public variants 203
Hidden variants 0
Date created May 03, 2013
Date last updated April 13, 2021
Version PDGFRA:210413

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 8803
Entrez Gene 5156
PubMed articles PDGFRA
OMIM - Gene 173490
OMIM - Diseases GIST (cancer, gastrointestinal stromal (GIST, gastrointestinal stromal tumor))
HES (hypereosinophilic syndrome, idiopathic (HES))
Orphanet PDGFRA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015902 4 platelet-derived growth factor receptor, alpha polypeptide NM_006206.4 NP_006197.1 36


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.