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Gene | ROS1 |
Variant | G514fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ROS1 G514fs results in a change in the amino acid sequence of the Ros1 protein beginning at aa 514 of 2347, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), G514fs is predicted to lead to a loss of Ros1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 G514fs |
Transcript | NM_002944.3 |
gDNA | chr6:g.(117389569_117389570) |
cDNA | c.(1540_1539) |
Protein | p.G514fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017011172.1 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_017011172.2 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_011536051.2 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_017011173 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_017011173.2 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_011536051.3 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_017011172 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_011536051 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
XM_017011173.1 | chr6:g.(117389569_117389570) | c.(1540_1539) | p.G514fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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