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CSF3R T615A - Gene Variant Detail

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Gene CSF3R
Variant T615A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R T615A lies within fibronectin type-III domain 5 of the Csf3r protein (PMID: 23656643). T615A confers a gain of function to the Csf3r protein as demonstrated by increased Stat3 phosphorylation and decreased O-linked glycosylation in cultured cells (PMID: 24403076) and transformation in cultured cells (PMID: 23656643, PMID: 24403076).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R T615A

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Transcript NM_000760.4
gDNA chr1:g.36467843T>C
cDNA c.1843A>G
Protein p.T615A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_156039.3 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_000760 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_156039 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_172313 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_017000370 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_005270493 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_011540748 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38
XM_011540749 chr1:g.36467843T>C c.1843A>G p.T615A RefSeq GRCh38/hg38

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  • 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