Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CSF3R |
Variant | I494V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF3R I494V lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). I494V has been identified in sequencing studies (PMID: 24121792), 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 I494V |
Transcript | NM_000760.4 |
gDNA | chr1:g.36469252T>C |
cDNA | c.1480A>G |
Protein | p.I494V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000760.4 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_172313.2 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_156039 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_011540748 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_005270493.1 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_047446753.1 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_011540749 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_011540749.1 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_005270493 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_156039.3 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_017000370 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_017000370.1 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
XM_011540748.3 | chr1:g.36469252T>C | c.1480A>G | p.I494V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|