PDGFRB T681I
Gene Variant Detail

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Gene PDGFRB
Variant T681I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PDGFRB T681I lies within the protein kinase domain of the Pdgfrb protein (UniProt.org). T681I results in increased Pdgfrb autophosphorylation and promotes ligand-independent proliferation in culture (PMID: 18794843), has been associated with secondary drug resistance in the context of a PDGFRB fusion (PMID: 33626861).
Associated Drug Resistance Y
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB T681I

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Transcript NM_002609.4
gDNA chr5:g.150123183G>A
cDNA c.2042C>T
Protein p.T681I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002609.4 chr5:g.150123183G>A c.2042C>T p.T681I RefSeq GRCh38/hg38
XM_011537659 chr5:g.150123183G>A c.2042C>T p.T681I RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150123183G>A c.2042C>T p.T681I RefSeq GRCh38/hg38
XM_011537658 chr5:g.150123183G>A c.2042C>T p.T681I RefSeq GRCh38/hg38
NM_002609 chr5:g.150123183G>A c.2042C>T p.T681I 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 T681I gain of function PDGFR Inhibitor (Pan) PDGFR-beta Inhibitor