PDGFRB

platelet derived growth factor receptor beta

Summary

The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]

Known Variants553 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2229562	5:149,495,253	C/T	—	benign
rs2229561	5:149,495,287	G/T	—	benign
rs376978985	5:149,495,350	C/T	—	likely benign
rs373655593	5:149,495,351	G/A	—	likely benign
rs2113879949	5:149,495,352	C/T	—	uncertain significance
rs267600485	5:149,495,355	G/A	—	uncertain significance
rs140615815	5:149,495,359	C/T	—	benign
rs114435947	5:149,495,360	G/A	—	likely benign
rs367604639	5:149,495,365	G/T	—	uncertain significance
rs770720319	5:149,495,368	C/A	—	likely benign
rs774197688	5:149,495,371	C/T	—	benign
rs146614144	5:149,495,372	G/A	—	conflicting classifications of pathogenicity
rs1759910310	5:149,495,373	A/T	—	uncertain significance
rs183852315	5:149,495,377	C/T	—	likely benign
rs246388	5:149,495,395	T/C	—	benign
rs762120386	5:149,495,401	C/T	—	likely benign
rs1554107047	5:149,495,406	C/T	—	uncertain significance
rs576668629	5:149,495,442	C/T	—	likely benign
rs141511317	5:149,495,443	G/A	—	likely benign
rs2113880271	5:149,495,451	G/T	—	uncertain significance
rs775520030	5:149,495,460	G/T	—	likely benign
rs765584733	5:149,495,466	C/T	—	conflicting classifications of pathogenicity
rs375352303	5:149,495,482	G/A	—	likely benign
rs900848864	5:149,495,486	G/C	—	uncertain significance
rs997837689	5:149,495,498	T/C	—	uncertain significance
rs529787907	5:149,495,502	G/A	—	likely benign
rs752920926	5:149,495,508	A/G	—	uncertain significance
rs368227038	5:149,495,520	G/C	—	likely benign
rs75732095	5:149,495,537	G/A	—	benign
rs77607501	5:149,495,569	A/G	—	likely benign
rs138324883	5:149,495,600	T/C	—	likely benign
rs12655077	5:149,495,606	G/A	—	benign
rs76993887	5:149,495,624	G/A	—	likely benign
rs165979	5:149,495,770	G/A	—	benign
rs76537636	5:149,496,955	C/T	—	benign
rs56764942	5:149,497,094	C/T	—	benign
rs530614215	5:149,497,095	G/A	—	likely benign
rs528099067	5:149,497,099	G/C	—	—
rs866649621	5:149,497,100	C/T	—	likely benign
rs140531823	5:149,497,101	G/A	—	likely benign
rs112938568	5:149,497,105	G/A	—	likely benign
rs28368814	5:149,497,107	G/A	—	benign
rs769968208	5:149,497,113	A/G	—	benign
rs41289061	5:149,497,133	A/G	—	benign
rs372374452	5:149,497,166	G/A	—	likely benign
rs2113883431	5:149,497,168	C/A	—	likely benign
rs758314238	5:149,497,171	G/A	—	likely benign
rs246391	5:149,497,177	T/C	—	benign
rs780935818	5:149,497,192	G/T	—	likely benign
rs149417689	5:149,497,199	C/A	—	likely benign
rs569140859	5:149,497,216	G/A	—	benign
rs1760001491	5:149,497,227	C/T	—	uncertain significance
rs2228440	5:149,497,228	A/G	—	benign
rs2113883671	5:149,497,249	G/A	—	likely benign
rs909165088	5:149,497,260	C/T	—	likely benign
rs769027565	5:149,497,261	G/A	—	likely benign
rs1405846528	5:149,497,279	C/T	—	likely benign
rs375836509	5:149,497,285	G/A	—	likely benign
rs2113883864	5:149,497,286	G/T	—	uncertain significance
rs182175304	5:149,497,288	A/C	—	benign
rs2113883881	5:149,497,289	G/A	—	uncertain significance
rs148183775	5:149,497,292	T/C	—	conflicting classifications of pathogenicity
rs2229559	5:149,497,300	G/A	—	benign
rs770576414	5:149,497,307	G/A	—	uncertain significance
rs776113877	5:149,497,321	T/A	—	likely benign
rs987244289	5:149,497,322	C/G	—	uncertain significance
rs201769526	5:149,497,342	C/T	—	likely benign
rs75748462	5:149,497,346	C/T	—	likely benign
rs140261309	5:149,497,347	G/A	—	conflicting classifications of pathogenicity
rs139699861	5:149,497,348	G/A	—	likely benign
rs35731372	5:149,497,358	C/T	—	likely benign
rs397509382	5:149,497,359	G/A	missense variant	pathogenic
rs753367645	5:149,497,364	A/G	—	uncertain significance
rs1561984983	5:149,497,379	C/T	—	uncertain significance
rs879255377	5:149,497,380	T/G	—	uncertain significance
rs1041732677	5:149,497,391	T/A	—	uncertain significance
rs370594710	5:149,497,399	C/T	—	likely benign
rs1411722144	5:149,497,404	G/T	—	uncertain significance
rs150600919	5:149,497,409	T/G	—	uncertain significance
rs2113884548	5:149,497,414	C/A	—	uncertain significance
rs201866603	5:149,497,421	C/T	—	conflicting classifications of pathogenicity
rs1760011368	5:149,497,432	G/C	—	likely benign
rs246392	5:149,497,672	C/T	—	benign
rs11740840	5:149,498,064	C/G	—	benign
rs246394	5:149,498,151	A/G	—	benign
rs150263966	5:149,498,223	T/C	—	likely benign
rs1432878	5:149,498,235	G/A	—	likely benign
rs202149971	5:149,498,295	C/T	—	benign
rs747398617	5:149,498,324	C/T	—	likely benign
rs139623802	5:149,498,325	G/A	—	likely benign
rs769978493	5:149,498,339	C/T	—	uncertain significance
rs773161073	5:149,498,340	G/A	—	likely benign
rs1321037719	5:149,498,342	G/C	—	likely benign
rs1760044565	5:149,498,357	G/T	—	uncertain significance
rs376007701	5:149,498,359	G/C	—	uncertain significance
rs55647240	5:149,498,370	C/T	—	likely benign
rs751229604	5:149,498,403	C/A	—	uncertain significance
rs555213709	5:149,498,624	G/T	—	—
rs1864974	5:149,498,759	A/T	—	benign
rs3733676	5:149,498,821	T/C	—	benign

Showing 100 of 553 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.