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Gene | ROS1 |
Variant | E2020K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 E2020K lies within the protein kinase domain of the Ros1 protein (UniProt.org). E2020K has been demonstrated to enhance resistance to Ros1 tyrosine kinase inhibitors with a concurrent ROS1 G2032R in the context of a Ros1 fusion in culture (PMID: 26372962, PMID: 31395437), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ROS1 mutant ROS1 E2020K |
Transcript | NM_002944.3 |
gDNA | chr6:g.117317220C>T |
cDNA | c.6058G>A |
Protein | p.E2020K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.2 | chr6:g.117317220C>T | c.6058G>A | p.E2020K | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117317220C>T | c.6058G>A | p.E2020K | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117317220C>T | c.6058G>A | p.E2020K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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