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Gene | ROS1 |
Variant | D2113G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ROS1 D2113G lies within the protein kinase domain of the Ros1 protein (UniProt.org). D2113G results in increased Ros1 activity, phosphorylation of Shp2 and Stat3, and colony formation in culture (PMID: 37587872) and has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of ROS1 fusions in culture (PMID: 26372962). |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 act mut ROS1 D2113G |
Transcript | NM_002944.3 |
gDNA | chr6:g.117310177T>C |
cDNA | c.6338A>G |
Protein | p.D2113G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944 | chr6:g.117310177T>C | c.6338A>G | p.D2113G | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117310177T>C | c.6338A>G | p.D2113G | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117310177T>C | c.6338A>G | p.D2113G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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