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Gene | CSF1R |
Variant | Y969C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CSF1R Y969C lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969C has been identified in the scientific literature (PMID: 2406720), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Aug 2023). |
Associated Drug Resistance | |
Category Variants Paths |
CSF1R mutant CSF1R Y969C |
Transcript | NM_005211.4 |
gDNA | chr5:g.150054082T>C |
cDNA | c.2906A>G |
Protein | p.Y969C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001288705.2 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_001288705.3 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_001288705 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_005211 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_005211.4 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_001349736.1 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_001375320.1 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_001349736.2 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
NM_005211.3 | chr5:g.150054082T>C | c.2906A>G | p.Y969C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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