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Gene | ROS1 |
Variant | E2308* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 E2308* results in a premature truncation of the Ros1 protein at amino acid 2308 of 2347 (UniProt.org). E2308* has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 E2308* |
Transcript | NM_002944.3 |
gDNA | chr6:g.117288614C>A |
cDNA | c.6922G>T |
Protein | p.E2308* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.3 | chr6:g.117288614C>A | c.6922G>T | p.E2308* | RefSeq | GRCh38/hg38 |
XM_011536049.3 | chr6:g.117288644C>A | c.6922G>T | p.E2308* | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117288614C>A | c.6922G>T | p.E2308* | RefSeq | GRCh38/hg38 |
XM_011536049 | chr6:g.117288644C>A | c.6922G>T | p.E2308* | RefSeq | GRCh38/hg38 |
XM_011536049.2 | chr6:g.117288644C>A | c.6922G>T | p.E2308* | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117288614C>A | c.6922G>T | p.E2308* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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