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| Gene | ROS1 |
| Variant | Y718* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ROS1 Y718* results in a premature truncation of the Ros1 protein at amino acid 718 of 2347 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Y718* is predicted to lead to a loss of Ros1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 Y718* |
| Transcript | NM_002944.3 |
| gDNA | chr6:g.117385833G>T |
| cDNA | c.2154C>A |
| Protein | p.Y718* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002944.2 | chr6:g.117385833G>T | c.2154C>A | p.Y718* | RefSeq | GRCh38/hg38 |
| NM_002944.3 | chr6:g.117385833G>T | c.2154C>A | p.Y718* | RefSeq | GRCh38/hg38 |
| XM_011536051.3 | chr6:g.117385833G>T | c.2154C>A | p.Y718* | RefSeq | GRCh38/hg38 |
| NM_002944 | chr6:g.117385833G>T | c.2154C>A | p.Y718* | RefSeq | GRCh38/hg38 |
| XM_011536053.3 | chr6:g.117385686A>T | c.2154T>A | p.Y718* | RefSeq | GRCh38/hg38 |
| XM_011536053.2 | chr6:g.117385686A>T | c.2154T>A | p.Y718* | RefSeq | GRCh38/hg38 |
| XM_011536051.2 | chr6:g.117385833G>T | c.2154C>A | p.Y718* | RefSeq | GRCh38/hg38 |
| XM_011536051 | chr6:g.117385833G>T | c.2154C>A | p.Y718* | RefSeq | GRCh38/hg38 |
| XM_011536053 | chr6:g.117385686A>T | c.2154T>A | p.Y718* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ROS1 Y718* | loss of function - predicted |