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Gene | ROS1 |
Variant | I2239* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ROS1 I2239* results in a premature truncation of the Ros1 protein at amino acid 2239 of 2347 (UniProt.org). I2239* retains autophosphorylation similar to wild-type Ros1 in the context of CD74-ROS1, but leads to decreased phosphorylation of Shp2, Erk1/2, Stat3, p70S6k, and S6 in cell culture (PMID: 34907086), and therefore, is predicted to lead to a loss of Ros1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 I2239* |
Transcript | NM_002944.3 |
gDNA | chr6:g.117300991_117300992delATinsTA |
cDNA | c.6715_6716delATinsTA |
Protein | p.I2239* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002944.2 | chr6:g.117300991_117300992delATinsTA | c.6715_6716delATinsTA | p.I2239* | RefSeq | GRCh38/hg38 |
NM_002944.3 | chr6:g.117300991_117300992delATinsTA | c.6715_6716delATinsTA | p.I2239* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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