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Gene | ROS1 |
Variant | S1986F |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ROS1 S1986F lies within the protein kinase domain of the Ros1 protein (UniProt.org). S1986F results in increased colony formation that is not statistically significant relative to wild-type Ros1 and increased Ros1 phosphorylation in culture (PMID: 37587872), and has been demonstrated to occur as a secondary drug resistance mutation and increase cell migration and invasion in the context of ROS1 fusions in culture (PMID: 36265718, PMID: 27401242, PMID: 32776005), and therefore, is predicted to lead to a gain of Ros1 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 act mut ROS1 S1986F |
Transcript | NM_002944.3 |
gDNA | chr6:g.117318236G>A |
cDNA | c.5957C>T |
Protein | p.S1986F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944 | chr6:g.117318236G>A | c.5957C>T | p.S1986F | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117318236G>A | c.5957C>T | p.S1986F | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117318236G>A | c.5957C>T | p.S1986F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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