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Gene | ROS1 |
Variant | L2000V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 L2000V lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2000V has been demonstrated to confer resistance to ROS1 inhibitors in culture (PMID: 33685866), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 L2000V |
Transcript | NM_002944.3 |
gDNA | chr6:g.117318195G>C |
cDNA | c.5998C>G |
Protein | p.L2000V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017011172.2 | chr6:g.117317241G>C | c.5998C>G | p.L2000V | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117318195G>C | c.5998C>G | p.L2000V | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117318195G>C | c.5998C>G | p.L2000V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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