Gene Variant Detail

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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

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Transcript NM_002944.2
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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
ROS1 I2239* loss of function - predicted