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Gene CSF3R
Variant L776A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF3R L776A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L776A results in increased cell surface Csf3r expression, impaired receptor internalization, elevated Stat5 activation, and is transforming in cell culture (PMID: 28439110).
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R L776A

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Transcript NM_000760.4
gDNA chr1:g.36466541_36466542delCTinsGC
cDNA c.2326_2327delCTinsGC
Protein p.L776A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005270493.1 chr1:g.36466538_36466539delTTinsGC c.2326_2327delTTinsGC p.L776A RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36466121_36466122delTTinsGC c.2326_2327delTTinsGC p.L776A RefSeq GRCh38/hg38
NM_172313 chr1:g.36466121_36466122delAAinsGC c.2326_2327delTTinsGC p.L776A RefSeq GRCh38/hg38
XM_005270493 chr1:g.36466538_36466539delAAinsGC c.2326_2327delTTinsGC p.L776A RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466541_36466542delCTinsGC c.2326_2327delCTinsGC p.L776A RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36466538_36466539delTTinsGC c.2326_2327delTTinsGC p.L776A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466541_36466542delCTinsGC c.2326_2327delCTinsGC p.L776A RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36466121_36466122delTTinsGC c.2326_2327delTTinsGC p.L776A RefSeq GRCh38/hg38
NM_000760 chr1:g.36466541_36466542delAGinsGC c.2326_2327delCTinsGC p.L776A RefSeq GRCh38/hg38

Filtering

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