PDGFRB K968_K969insEQ
Gene Variant Detail

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Gene PDGFRB
Variant K968_K969insEQ
Impact List insertion
Protein Effect loss of function - predicted
Gene Variant Descriptions PDGFRB K968_K969insEQ results in the insertion of a glutamic acid (E) and a glutamine (Q) in the cytoplasmic domain of the Pdgfrb protein between amino acids 968 and 969 (UniProt.org). K968_K969insEQ results in decreased response to Pdgf stimulation in a reporter assay and in culture (PMID: 39580648), and therefore, is predicted to lead to a loss of Pdgfrb protein function.
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB inact mut PDGFRB K968_K969insEQ

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Transcript NM_002609.4
gDNA chr5:g.150117850_150117851insTTGCTC
cDNA c.2905-1_2905insGAGCAA
Protein p.K968_K969insEQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.4 chr5:g.150117850_150117851insTTGCTC c.2905-1_2905insGAGCAA p.K968_K969insEQ 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 Protein Effect Treatment Approaches
PDGFRB K968_K969insEQ loss of function - predicted