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Gene | CBL |
Variant | Y371F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL Y371F lies within the linker region of the Cbl protein (UniProt.org). Y371F impairs E3 ubiquitin ligase activity and demonstrates reduced levels of Egfr ubiquitination compared to wild-type Cbl in cell culture and an in vitro assay (PMID: 10635327). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Y371F CBL mutant CBL inact mut CBL Y371F |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278182A>T |
cDNA | c.1112A>T |
Protein | p.Y371F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278182A>T | c.1112A>T | p.Y371F | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278182A>T | c.1112A>T | p.Y371F | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278182A>T | c.1112A>T | p.Y371F | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278182A>T | c.1112A>T | p.Y371F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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