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	47
Unique public DNA variants reported	35
Individuals with public variants	203
Hidden variants	1
Date created	May 03, 2013
Date last updated	April 19, 2024
Version	PDGFRA:240419

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

Legend

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How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00015902	4	platelet-derived growth factor receptor, alpha polypeptide	NM_006206.4	NP_006197.1	47

Copyright & disclaimer
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Global Variome shared LOVD

PDGFRA (platelet-derived growth factor receptor, al...)