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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

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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_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_002944.2 chr6:g.(117389569_117389570) c.(1540_1539) p.G514fs RefSeq GRCh38/hg38
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 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
NM_002944 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_017011173.1 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
XM_017011173 chr6:g.(117389569_117389570) c.(1540_1539) p.G514fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References