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Gene CSF3R
Variant T612A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R T612A lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). T612A results in cytokine-independent cell growth and increased ligand-dependent phosphorylation of Stat3 and Erk compared to wild-type Csf3r in culture (PMID: 29572350).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R T612A

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Transcript NM_000760.4
gDNA chr1:g.36467852T>C
cDNA c.1834A>G
Protein p.T612A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_172313.3 chr1:g.36467852T>C c.1834A>G p.T612A RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467852T>C c.1834A>G p.T612A RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467852T>C c.1834A>G p.T612A RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467852T>C c.1834A>G p.T612A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467852T>C c.1834A>G p.T612A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467852T>C c.1834A>G p.T612A RefSeq GRCh38/hg38

Filtering

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References