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Gene | ROS1 |
Variant | L2010M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 L2010M lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2010M has been associated with resistance to Ros1 tyrosine kinase inhibitors in the context of a ROS1 fusion in patients (PMID: 38416709), 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 L2010M |
Transcript | NM_002944.3 |
gDNA | chr6:g.117317250G>T |
cDNA | c.6028C>A |
Protein | p.L2010M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011536049.3 | chr6:g.117318195G>T | c.6028C>A | p.L2010M | RefSeq | GRCh38/hg38 |
XM_011536054.3 | chr6:g.117318195G>T | c.6028C>A | p.L2010M | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117317250G>T | c.6028C>A | p.L2010M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ROS1 L2010M | unknown |