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Gene | ROS1 |
Variant | S1626Vfs*7 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ROS1 S1626Vfs*7 indicates a shift in the reading frame starting at amino acid 1626 and terminating 7 residues downstream causing a premature truncation of the 2347 amino acid Ros1 protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), S1626Vfs*7 is predicted to lead to a loss of Ros1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 S1626Vfs*7 |
Transcript | NM_002944.3 |
gDNA | chr6:g.117341426_117341429delACAG |
cDNA | c.4876_4879delTCTG |
Protein | p.S1626Vfs*7 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.2 | chr6:g.117341426_117341429delACAG | c.4876_4879delTCTG | p.S1626Vfs*7 | RefSeq | GRCh38/hg38 |
XM_017011173.2 | chr6:g.117341296_117341297insTTGGGGGGGGGGGGAC | c.4875_4876insGTCCCCCCCCCCCCAA | p.S1626Vfs*7 | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117341426_117341429delACAG | c.4876_4879delTCTG | p.S1626Vfs*7 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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