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Gene | CSF3R |
Variant | P784T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CSF3R P784T lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P784T results in delayed internalization of Csf3r, leading to increased cell surface Csf3r localization, phosphorylation of Stat3 and Stat5, and proliferation in response to cytokine in culture (PMID: 33108454). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R P784T |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466518G>T |
cDNA | c.2350C>A |
Protein | p.P784T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.4 | chr1:g.36466518G>T | c.2350C>A | p.P784T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CSF3R P784T | gain of function |