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Gene | ROS1 |
Variant | E1244* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ROS1 E1244* results in a premature truncation of the Ros1 protein at amino acid 1244 of 2347 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E1244* is predicted to lead to a loss of Ros1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 E1244* |
Transcript | NM_002944.3 |
gDNA | chr6:g.117357928C>A |
cDNA | c.3730G>T |
Protein | p.E1244* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.3 | chr6:g.117357928C>A | c.3730G>T | p.E1244* | RefSeq | GRCh38/hg38 |
XM_017011172.1 | chr6:g.117357889C>A | c.3730G>T | p.E1244* | RefSeq | GRCh38/hg38 |
XM_017011172.2 | chr6:g.117357889C>A | c.3730G>T | p.E1244* | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117357928C>A | c.3730G>T | p.E1244* | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117357928C>A | c.3730G>T | p.E1244* | RefSeq | GRCh38/hg38 |
XM_017011172 | chr6:g.117357889C>A | c.3730G>T | p.E1244* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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