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Gene CSF3R
Variant H436Mfs*12
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CSF3R H436Mfs*12 indicates a shift in the reading frame starting at amino acid 436 and terminating 12 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). Due to the loss of the transmembrane and cytoplasmic domains (UniProt.org), H436Mfs*12 is predicted to lead to a loss of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R inact mut CSF3R H436Mfs*12

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Transcript NM_000760.4
gDNA chr1:g.36469821delG
cDNA c.1306delC
Protein p.H436Mfs*12
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540749 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_172313 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_000760 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_156039 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_005270493 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_017000370 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_011540748 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469821delG c.1306delC p.H436Mfs*12 RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36469821delG c.1306delC p.H436Mfs*12 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