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Gene | ROS1 |
Variant | F2004L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 F2004L lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2004L has been demonstrated to confer resistance to ROS1 inhibitors in the context of ROS1 fusions in culture (PMID: 33558279), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 F2004L |
Transcript | NM_002944.3 |
gDNA | chr6:g.117317268A>G |
cDNA | c.6010T>C |
Protein | p.F2004L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.2 | chr6:g.117317268A>G | c.6010T>C | p.F2004L | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117317268A>G | c.6010T>C | p.F2004L | RefSeq | GRCh38/hg38 |
XM_011536054.3 | chr6:g.117318213A>G | c.6010T>C | p.F2004L | RefSeq | GRCh38/hg38 |
XM_011536049.3 | chr6:g.117318213A>G | c.6010T>C | p.F2004L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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