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Gene | ROS1 |
Variant | L1949F |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ROS1 L1949F lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1949F results in increased colony formation that is not statistically significant relative to wild-type Ros1 and increased Ros1 phosphorylation in culture (PMID: 37587872), and therefore, is predicted to lead to a gain of Ros1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 act mut ROS1 L1949F |
Transcript | NM_002944.2 |
gDNA | chr6:g.117319963G>A |
cDNA | c.5845C>T |
Protein | p.L1949F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.2 | chr6:g.117319963G>A | c.5845C>T | p.L1949F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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