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Gene | ROS1 |
Variant | E1990G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 E1990G lies within the protein kinase domain of the Ros1 protein (UniProt.org). E1990G has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 25351743), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 E1990G |
Transcript | NM_002944.3 |
gDNA | chr6:g.117318224T>C |
cDNA | c.5969A>G |
Protein | p.E1990G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944 | chr6:g.117318224T>C | c.5969A>G | p.E1990G | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117318224T>C | c.5969A>G | p.E1990G | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117318224T>C | c.5969A>G | p.E1990G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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