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Gene | CSF3R |
Variant | N610S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | CSF3R N610S lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). N610S is transforming in cell culture (PMID: 30348809), and therefore, is predicted to lead to a gain of Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R act mut CSF3R N610S |
Transcript | NM_000760.4 |
gDNA | chr1:g.36467857T>C |
cDNA | c.1829A>G |
Protein | p.N610S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |