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, GISTPS, HES
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 43
Unique public DNA variants reported 33
Individuals with public variants 203
Hidden variants -
Date created May 03, 2013
Date last updated November 27, 2023
Version PDGFRA:231127

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))
GISTPS (Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial)
HES (hypereosinophilic syndrome, idiopathic (HES))
Orphanet PDGFRA

Active transcripts




NCBI ID     

NCBI Protein ID     

00015902 4 platelet-derived growth factor receptor, alpha polypeptide NM_006206.4 NP_006197.1 43

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