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Gene | CBL |
Variant | D459V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL D459V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). D459V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL D459V |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278658A>T |
cDNA | c.1376A>T |
Protein | p.D459V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278658A>T | c.1376A>T | p.D459V | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278658A>T | c.1376A>T | p.D459V | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278658A>T | c.1376A>T | p.D459V | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278658A>T | c.1376A>T | p.D459V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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