PDGFRB R849_K860delinsHAGLELHLQ
Gene Variant Detail

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Gene PDGFRB
Variant R849_K860delinsHAGLELHLQ
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions PDGFRB R849_K860delinsHAGLELHLQ results in a deletion of 12 amino acids in the protein kinase domain of the Pdgfrb protein from amino acids 849 to 860, combined with the insertion of nine amino acids at the same site (UniProt.org). R849_K860delinsHAGLELHLQ results in increased autophosphorylation of Pdgfrb in cultured cells (PMID: 31031011), 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_K860delinsHAGLELHLQ

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Transcript NM_002609.4
gDNA chr5:g.150120894_150120929delinsTTGAAGATGAAGCTCAAGACCTGCATG
cDNA c.2545_2580delinsCATGCAGGTCTTGAGCTTCATCTTCAA
Protein p.R849_K860delinsHAGLELHLQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.3 chr5:g.150120894_150120929delinsTTGAAGATGAAGCTCAAGACCTGCATG c.2545_2580delinsCATGCAGGTCTTGAGCTTCATCTTCAA p.R849_K860delinsHAGLELHLQ RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150120894_150120929delinsTTGAAGATGAAGCTCAAGACCTGCATG c.2545_2580delinsCATGCAGGTCTTGAGCTTCATCTTCAA p.R849_K860delinsHAGLELHLQ RefSeq GRCh38/hg38
XM_011537658 chr5:g.150120894_150120929delinsTTGAAGATGAAGCTCAAGACCTGCATG c.2545_2580delinsCATGCAGGTCTTGAGCTTCATCTTCAA p.R849_K860delinsHAGLELHLQ RefSeq GRCh38/hg38
XM_011537659 chr5:g.150120894_150120929delinsTTGAAGATGAAGCTCAAGACCTGCATG c.2545_2580delinsCATGCAGGTCTTGAGCTTCATCTTCAA p.R849_K860delinsHAGLELHLQ RefSeq GRCh38/hg38
NM_002609 chr5:g.150120894_150120929delinsTTGAAGATGAAGCTCAAGACCTGCATG c.2545_2580delinsCATGCAGGTCTTGAGCTTCATCTTCAA p.R849_K860delinsHAGLELHLQ RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Protein Effect Treatment Approaches
PDGFRB R849_K860delinsHAGLELHLQ gain of function - predicted PDGFR Inhibitor (Pan) PDGFR-beta Inhibitor