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Gene | CSF3R |
Variant | T640I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CSF3R T640I lies within the transmembrane domain of the Csf3r protein (UniProt.org). T640I results in cytokine-induced proliferation similar to wild-type protein (PMID: 33108454) and is not transforming in cell culture (PMID: 29572350), and therefore, is predicted to have no effect on Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R T640I |
Transcript | NM_000760.4 |
gDNA | chr1:g.36467597G>A |
cDNA | c.1919C>T |
Protein | p.T640I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |