PDGFRB R849_D850delinsH
Gene Variant Detail

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Gene PDGFRB
Variant R849_D850delinsH
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRB R849_D850delinsH results in a deletion of two amino acids in the protein kinase domain of the Pdgfrb protein from amino acids 849 to 850, combined with the insertion of a histidine (H) at the same site (UniProt.org). R849_D850delinsH results in constitutive Pdgfrb activity and is associated with resistance in a reporter assay (PMID: 39580648), and therefore, is predicted to lead to a gain of Pdgfrb protein function.
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB R849_D850delinsH

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Transcript NM_002609.4
gDNA chr5:g.150120926_150120928delCTC
cDNA c.2546_2548delGAG
Protein p.R849_D850delinsH
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.4 chr5:g.150120926_150120928delCTC c.2546_2548delGAG p.R849_D850delinsH RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries