CSF3R T612I
Gene Variant Detail

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Gene CSF3R
Variant T612I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R T612I lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). T612I 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 T612I

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Transcript NM_000760.4
gDNA chr1:g.36467851G>A
cDNA c.1835C>T
Protein p.T612I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540749.1 chr1:g.36467851G>A c.1835C>T p.T612I RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467851G>A c.1835C>T p.T612I RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467851G>A c.1835C>T p.T612I RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467851G>A c.1835C>T p.T612I RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467851G>A c.1835C>T p.T612I RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36467851G>A c.1835C>T p.T612I RefSeq GRCh38/hg38

Filtering

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  • 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