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Gene | ROS1 |
Variant | D2033N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 D2033N lies within the protein kinase domain of the Ros1 protein (UniProt.org). D2033N has been demonstrated to confer resistance to Ros1 tyrosine kinase inhibitors and increase cell migration and invasion in the context of Ros1 fusions in culture (PMID: 36265718, PMID: 26673800), but has not been individually characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 D2033N |
Transcript | NM_002944.3 |
gDNA | chr6:g.117317181C>T |
cDNA | c.6097G>A |
Protein | p.D2033N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.3 | chr6:g.117317181C>T | c.6097G>A | p.D2033N | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117317181C>T | c.6097G>A | p.D2033N | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117317181C>T | c.6097G>A | p.D2033N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ROS1 D2033N | Advanced Solid Tumor | predicted - sensitive | Lorlatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Lorbrena (lorlatinib) inhibited kinase activity of a transformed cell line expressing ROS1 D2033N in culture (PMID: 32918045). | 32918045 |
ROS1 D2033N | Advanced Solid Tumor | predicted - sensitive | Foritinib | Preclinical - Biochemical | Actionable | In a preclinical study, Foritinib inhibited the kinase activity of a transformed cell line expressing ROS1 D2033N in culture (PMID: 32918045). | 32918045 |