PDGFRB N666H
Gene Variant Detail

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Gene PDGFRB
Variant N666H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PDGFRB N666H lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). N666H results in constitutive activation of Pdgfrb and is transforming in cell culture (PMID: 28726812).
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB N666H

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Transcript NM_002609.4
gDNA chr5:g.150124277T>G
cDNA c.1996A>C
Protein p.N666H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609 chr5:g.150124277T>G c.1996A>C p.N666H RefSeq GRCh38/hg38
XM_011537658 chr5:g.150124277T>G c.1996A>C p.N666H RefSeq GRCh38/hg38
XM_011537659 chr5:g.150124277T>G c.1996A>C p.N666H RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150124277T>G c.1996A>C p.N666H RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150124277T>G c.1996A>C p.N666H 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 N666H Advanced Solid Tumor sensitive Imatinib Preclinical - Patient cell culture Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Pdgfrb phosphorylation, resulting in growth inhibition of transformed cells overexpressing PDGFRB N666H and in primary cells derived from a patient harboring germline PDGFRB N666H (PMID: 28726812). 28726812