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Gene | ROS1 |
Variant | F2004V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 F2004V lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2004V has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion (PMID: 28717217, PMID: 32914039), 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 F2004V |
Transcript | NM_002944.3 |
gDNA | chr6:g.117317268A>C |
cDNA | c.6010T>G |
Protein | p.F2004V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011536054.3 | chr6:g.117318213A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
XM_011536049.2 | chr6:g.117318213A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117317268A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117317268A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117317268A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
XM_011536054.2 | chr6:g.117318213A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
XM_011536049 | chr6:g.117318213A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
XM_011536054 | chr6:g.117318213A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
XM_011536049.3 | chr6:g.117318213A>C | c.6010T>G | p.F2004V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ROS1 F2004V | unknown | |
ROS1 fusion ROS1 F2004V |