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Gene | CSF3R |
Variant | R269C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R R269C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R269C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R R269C |
Transcript | NM_000760.4 |
gDNA | chr1:g.36472555G>A |
cDNA | c.805C>T |
Protein | p.R269C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |