PDGFRB Y562D
Gene Variant Detail

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Gene PDGFRB
Variant Y562D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PDGFRB Y562D lies within the cytoplasmic domain of the Pdgfrb protein (UniProt.org). Y562D confers a gain of function to Pdgfrb as demonstrated by elevated Stat3 and Mapk activity in a reporter assay (PMID: 31017643) and increased Pdgfrb and Jak2 phosphorylation, proliferation, and migration in culture (PMID: 38741091).
Associated Drug Resistance
Category Variants Paths

PDGFRB mutant PDGFRB act mut PDGFRB Y562D

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Transcript NM_002609.4
gDNA chr5:g.150125568A>C
cDNA c.1684T>G
Protein p.Y562D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011537658 chr5:g.150125568A>C c.1684T>G p.Y562D RefSeq GRCh38/hg38
NM_002609.3 chr5:g.150125568A>C c.1684T>G p.Y562D RefSeq GRCh38/hg38
NM_002609.4 chr5:g.150125568A>C c.1684T>G p.Y562D RefSeq GRCh38/hg38
XM_011537659 chr5:g.150125568A>C c.1684T>G p.Y562D RefSeq GRCh38/hg38
NM_002609 chr5:g.150125568A>C c.1684T>G p.Y562D 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries