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Gene | CBL |
Variant | I383L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL I383L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). I383L results in a loss of Cbl E3 ubiquitin ligase activity, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 19620960). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL I383L CBL mutant CBL inact mut CBL I383L |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278217A>C |
cDNA | c.1147A>C |
Protein | p.I383L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278217A>C | c.1147A>C | p.I383L | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278217A>C | c.1147A>C | p.I383L | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278217A>C | c.1147A>C | p.I383L | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278217A>C | c.1147A>C | p.I383L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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