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Gene | CSF3R |
Variant | L62Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R L62Q lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). L62Q 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 L62Q |
Transcript | NM_000760.4 |
gDNA | chr1:g.36475553A>T |
cDNA | c.185T>A |
Protein | p.L62Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_172313 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_156039 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_011540748 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_011540749 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_017000370 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_005270493 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36475553A>T | c.185T>A | p.L62Q | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36475553A>T | c.185T>A | p.L62Q | 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 |