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| Gene | ROS1 |
| Variant | E2071K |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | ROS1 E2071K lies within the protein kinase domain of the Ros1 protein (UniProt.org). E2071K results in increased colony formation and tumor formation that is not statistically significant relative to wild-type Ros1 and increased Ros1 phosphorylation in culture (PMID: 37587872), and therefore, is predicted to lead to a gain of Ros1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ROS1 mutant ROS1 act mut ROS1 E2071K |
| Transcript | NM_002944.2 |
| gDNA | chr6:g.117311042C>T |
| cDNA | c.6211G>A |
| Protein | p.E2071K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002944.2 | chr6:g.117311042C>T | c.6211G>A | p.E2071K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|