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Gene | CBL |
Variant | V391I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL V391I lies within the RING finger domain of the Cbl protein (PMID: 20126411). V391I is predicted to result in a loss of function by interfering with the E3 ubiquitin ligase activity of Cbl and displays reduced ubiquitination towards a Cbl target, Egfr (PMID: 20126411, PMID: 26676746). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL V391I CBL mutant CBL inact mut CBL V391I |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278241G>A |
cDNA | c.1171G>A |
Protein | p.V391I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278241G>A | c.1171G>A | p.V391I | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278241G>A | c.1171G>A | p.V391I | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278241G>A | c.1171G>A | p.V391I | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278241G>A | c.1171G>A | p.V391I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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