Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | ROS1 |
Variant | D2247Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ROS1 D2247Y lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). D2247Y 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 D2247Y |
Transcript | NM_002944.3 |
gDNA | chr6:g.117288797C>A |
cDNA | c.6739G>T |
Protein | p.D2247Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944 | chr6:g.117288797C>A | c.6739G>T | p.D2247Y | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117288797C>A | c.6739G>T | p.D2247Y | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117288797C>A | c.6739G>T | p.D2247Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|