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Gene | CSF3R |
Variant | S581C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CSF3R S581C lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581C confers a gain of function to the Csf3r protein as demonstrated by increased receptor dimerization and is transforming in cell culture (PMID: 29572350). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R S581C |
Transcript | NM_000760.4 |
gDNA | chr1:g.36467944G>C |
cDNA | c.1742C>G |
Protein | p.S581C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |