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Gene | ROS1 |
Variant | D2213N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 D2213N lies within the protein kinase domain of the Ros1 protein (UniProt.org). D2213N has been identified in sequencing studies (PMID: 27882345, PMID: 35145582, PMID: 32069381), 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 D2213N |
Transcript | NM_002944.3 |
gDNA | chr6:g.117301070C>T |
cDNA | c.6637G>A |
Protein | p.D2213N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944 | chr6:g.117301070C>T | c.6637G>A | p.D2213N | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117301070C>T | c.6637G>A | p.D2213N | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117301070C>T | c.6637G>A | p.D2213N | RefSeq | GRCh38/hg38 |
XM_011536049.3 | chr6:g.117301100C>T | c.6637G>A | p.D2213N | RefSeq | GRCh38/hg38 |
XM_011536049.2 | chr6:g.117301100C>T | c.6637G>A | p.D2213N | RefSeq | GRCh38/hg38 |
XM_011536049 | chr6:g.117301100C>T | c.6637G>A | p.D2213N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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