PDGFRB Y562C
Gene Variant Detail

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Gene PDGFRB
Variant Y562C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PDGFRB Y562C lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). Y562C results in increased phosphorylation of Pdgfrb, Src, Akt, and Erk, and leads to eleveated Pdgfrb autophosphorylation and increased downstream signaling in the presence of growth factor in cultured cells (PMID: 31031011).
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB Y562C

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Transcript NM_002609.4
gDNA chr5:g.150125567T>C
cDNA c.1685A>G
Protein p.Y562C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011537659 chr5:g.150125567T>C c.1685A>G p.Y562C RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150125567T>C c.1685A>G p.Y562C RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150125567T>C c.1685A>G p.Y562C RefSeq GRCh38/hg38
NM_002609 chr5:g.150125567T>C c.1685A>G p.Y562C RefSeq GRCh38/hg38
XM_011537658 chr5:g.150125567T>C c.1685A>G p.Y562C 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 Y562C gain of function PDGFR Inhibitor (Pan) PDGFR-beta Inhibitor