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Gene | CSF3R |
Variant | Y752* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R Y752* results in a premature truncation of the Csf3r protein at amino acid 752 of 836 (UniProt.org). Y752* has been identified in the scientific literature (PMID: 23656643), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R Y752* |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466612A>T |
cDNA | c.2256T>A |
Protein | p.Y752* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.3 | chr1:g.36466612A>T | c.2256T>A | p.Y752* | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466612A>T | c.2256T>A | p.Y752* | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36466612A>T | c.2256T>A | p.Y752* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CSF3R Y752* | unknown |