PDGFRB R849_D850delinsH
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRB R849_D850delinsH Advanced Solid Tumor predicted - resistant Imatinib Preclinical - Biochemical Actionable In a preclinical study, PDGFRB R849_D850delinsH demonstrated resistance to inhibition of Pdgrb activity by Gleevec (imatinib) in a reporter assay in cultured cells (PMID: 39580648). 39580648
PDGFRB R849_D850delinsH Advanced Solid Tumor predicted - sensitive Dasatinib Preclinical - Biochemical Actionable In a preclinical study, Sprycel (dasatinib) treatment inhibited Pdgfrb activity in a reporter assay in a cell line expressing PDGFRB R849_D850delinsH (PMID: 39580648). 39580648