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Gene | CBL |
Variant | Q367R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Q367R lies within the linker region of the Cbl protein (UniProt.org). Q367R has been identified in sequencing studies (PMID: 26956871, PMID: 30836094, PMID: 24896186), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Q367R |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278170A>G |
cDNA | c.1100A>G |
Protein | p.Q367R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278170A>G | c.1100A>G | p.Q367R | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278170A>G | c.1100A>G | p.Q367R | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278170A>G | c.1100A>G | p.Q367R | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278170A>G | c.1100A>G | p.Q367R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL Q367R | unknown |