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Gene CSF3R
Variant A119T
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CSF3R A119T lies within the extracellular domain of the Csf3r protein (UniProt.org). A119T leads to a loss of Csf3r protein function as demonstrated by decreased cytokine-induced proliferation and phosphorylation of Stat3 and Stat5 in culture (PMID: 33108454).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R inact mut CSF3R A119T

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Transcript NM_000760.4
gDNA chr1:g.36475383C>T
cDNA c.355G>A
Protein p.A119T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005270493.1 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_172313 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_156039 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_017000370 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_011540749 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_000760 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_005270493 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_011540748 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36475383C>T c.355G>A p.A119T RefSeq GRCh38/hg38

Filtering

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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