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Gene | CBL |
Variant | Q882H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Q882H lies within the UBA domain of the Cbl protein (UniProt.org). Q882H has been identified in sequencing studies (PMID: 30352278), 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 Q882H |
Transcript | NM_005188.4 |
gDNA | chr11:g.119299706G>T |
cDNA | c.2646G>T |
Protein | p.Q882H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119299706G>T | c.2646G>T | p.Q882H | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119299706G>T | c.2646G>T | p.Q882H | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119299706G>T | c.2646G>T | p.Q882H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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