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Gene | ROS1 |
Variant | K1980E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | ROS1 K1980E lies within the protein kinase domain of the Ros1 protein (UniProt.org). K1980E results in loss of Ros1 protein function as demonstrated by decreased Ros1 phosphorylation, and failure to induce colony growth in culture or tumor formation in a mouse model (PMID: 37587872). |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 K1980E |
Transcript | NM_002944.3 |
gDNA | chr6:g.117319870T>C |
cDNA | c.5938A>G |
Protein | p.K1980E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.2 | chr6:g.117319870T>C | c.5938A>G | p.K1980E | RefSeq | GRCh38/hg38 |
NM_001378891.1 | chr6:g.117318243T>C | c.5938A>G | p.K1980E | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117319870T>C | c.5938A>G | p.K1980E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ROS1 K1980E | loss of function |