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Gene | ROS1 |
Variant | D780Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 D780Y lies within the extracellular domain of the Ros1 protein (UniProt.org). D780Y has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 D780Y |
Transcript | NM_002944.3 |
gDNA | chr6:g.117383475C>A |
cDNA | c.2338G>T |
Protein | p.D780Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.3 | chr6:g.117383475C>A | c.2338G>T | p.D780Y | RefSeq | GRCh38/hg38 |
XM_011536051.2 | chr6:g.117383475C>A | c.2338G>T | p.D780Y | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117383475C>A | c.2338G>T | p.D780Y | RefSeq | GRCh38/hg38 |
XM_011536051 | chr6:g.117383475C>A | c.2338G>T | p.D780Y | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117383475C>A | c.2338G>T | p.D780Y | RefSeq | GRCh38/hg38 |
XM_011536051.3 | chr6:g.117383475C>A | c.2338G>T | p.D780Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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