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Gene | ROS1 |
Variant | L1947R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 L1947R lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1947R has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 24218589), 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 L1947R |
Transcript | NM_002944.3 |
gDNA | chr6:g.117319968A>C |
cDNA | c.5840T>G |
Protein | p.L1947R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011536053 | chr6:g.117318209A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536053.2 | chr6:g.117318209A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536049.2 | chr6:g.117319998A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536049.3 | chr6:g.117319998A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117319968A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536054.2 | chr6:g.117319998A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536052.2 | chr6:g.117319956A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536052 | chr6:g.117319956A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536054 | chr6:g.117319998A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117319968A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536053.3 | chr6:g.117318209A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536049 | chr6:g.117319998A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
XM_011536054.3 | chr6:g.117319998A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
NM_001378891.1 | chr6:g.117319956A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117319968A>C | c.5840T>G | p.L1947R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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