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Gene | CBL |
Variant | Y371D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL Y371D lies within the linker region of the Cbl protein (UniProt.org). Y371D disrupts Cbl conformation in in vitro assays, and is transforming in cell culture (PMID: 27609087), and therefore, is predicted to lead to a loss of Cbl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Y371D CBL mutant CBL inact mut CBL Y371D |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278181T>G |
cDNA | c.1111T>G |
Protein | p.Y371D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278181T>G | c.1111T>G | p.Y371D | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278181T>G | c.1111T>G | p.Y371D | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278181T>G | c.1111T>G | p.Y371D | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278181T>G | c.1111T>G | p.Y371D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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