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Gene | CSF3R |
Variant | P20L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R P20L lies within the signal peptide region of the Csf3r protein (UniProt.org). P20L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R P20L |
Transcript | NM_000760.4 |
gDNA | chr1:g.36479438G>A |
cDNA | c.59C>T |
Protein | p.P20L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017000370 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_011540749 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_011540750.1 | chr1:g.36472629G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_005270493 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_011540748 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_011540750 | chr1:g.36472629G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_156039 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36479438G>A | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CSF3R mutant | bone marrow cancer | not applicable | N/A | Clinical Study | Emerging | In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). | 24081659 23656643 24441292 |