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Gene | CBL |
Variant | R420L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL R420L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). R420L demonstrates retention of binding to Cin85 in the absence of growth factor stimulation in culture (PMID: 33627783) and is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been fully biochemically characterized and therefore, its effect on Cbl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL R420L |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278541G>T |
cDNA | c.1259G>T |
Protein | p.R420L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278541G>T | c.1259G>T | p.R420L | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278541G>T | c.1259G>T | p.R420L | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278541G>T | c.1259G>T | p.R420L | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278541G>T | c.1259G>T | p.R420L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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