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 | E539* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ROS1 E539* results in a premature truncation of the Ros1 protein at amino acid 539 of 2347 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E539* is predicted to lead to a loss of Ros1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 E539* |
Transcript | NM_002944.3 |
gDNA | chr6:g.117389494C>A |
cDNA | c.1615G>T |
Protein | p.E539* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_011536051 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011172.2 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_011536051.3 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011173.1 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011172 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011173.2 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011173 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011172.1 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_011536051.2 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ROS1 E539* | loss of function - predicted |