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Gene | CSF3R |
Variant | K705A |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | CSF3R K705A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K705A results in cell surface Csf3r expression, Stat5 activation, and receptor ubiquitination similar to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CSF3R mutant CSF3R K705A |
Transcript | NM_000760.4 |
gDNA | chr1:g.36466754_36466755delAAinsGC |
cDNA | c.2113_2114delAAinsGC |
Protein | p.K705A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_172313.2 | chr1:g.36466754_36466755delAAinsGC | c.2113_2114delAAinsGC | p.K705A | RefSeq | GRCh38/hg38 |
NM_172313 | chr1:g.36466754_36466755delTTinsGC | c.2113_2114delAAinsGC | p.K705A | RefSeq | GRCh38/hg38 |
NM_000760.3 | chr1:g.36466754_36466755delAAinsGC | c.2113_2114delAAinsGC | p.K705A | RefSeq | GRCh38/hg38 |
NM_000760 | chr1:g.36466754_36466755delTTinsGC | c.2113_2114delAAinsGC | p.K705A | RefSeq | GRCh38/hg38 |
NM_172313.3 | chr1:g.36466754_36466755delAAinsGC | c.2113_2114delAAinsGC | p.K705A | RefSeq | GRCh38/hg38 |
NM_000760.4 | chr1:g.36466754_36466755delAAinsGC | c.2113_2114delAAinsGC | p.K705A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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