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Gene | ROS1 |
Variant | L2026M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 L2026M lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2026M has been demonstrated to confer resistance to ROS1 inhibitors in the context of a Ros1 fusion (PMID: 25351743, PMID: 32918045), and results in increased colony formation, cell migration, and ERK/AKT signaling in the context of a ROS1 fusion in culture (PMID: 38148635), but has not been individually characterized and therefore, its effect on Ros1 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 L2026M |
Transcript | NM_002944.3 |
gDNA | chr6:g.117317202G>T |
cDNA | c.6076C>A |
Protein | p.L2026M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.2 | chr6:g.117317202G>T | c.6076C>A | p.L2026M | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117317202G>T | c.6076C>A | p.L2026M | RefSeq | GRCh38/hg38 |
XM_011536050 | chr6:g.117317229G>T | c.6076C>A | p.L2026M | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117317202G>T | c.6076C>A | p.L2026M | RefSeq | GRCh38/hg38 |
XM_011536050.3 | chr6:g.117317229G>T | c.6076C>A | p.L2026M | RefSeq | GRCh38/hg38 |
XM_011536050.2 | chr6:g.117317229G>T | c.6076C>A | p.L2026M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ROS1 L2026M | 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 L2026M in culture (PMID: 32918045). | 32918045 |
ROS1 L2026M | Advanced Solid Tumor | predicted - sensitive | Foritinib | Preclinical - Biochemical | Actionable | In a preclinical study, Foritinib inhibited kinase activity of a transformed cell line expressing ROS1 L2026M in culture (PMID: 32918045). | 32918045 |