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Gene | ROS1 |
Variant | C2060G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 C2060G lies within the protein kinase domain of the Ros1 protein (UniProt.org). C2060G has been demonstrated to confer resistance to Ros1 tyrosine kinase inhibitors in the context of Ros1 fusion in culture (PMID: 24218589), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 C2060G |
Transcript | NM_002944.3 |
gDNA | chr6:g.117311075A>C |
cDNA | c.6178T>G |
Protein | p.C2060G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944 | chr6:g.117311075A>C | c.6178T>G | p.C2060G | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117311075A>C | c.6178T>G | p.C2060G | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117311075A>C | c.6178T>G | p.C2060G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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