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Gene | CBL |
Variant | C384R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL C384R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C384R results in a loss of Cbl function as indicated by decreased degradation of Jak2, and increased expression and signaling of Jak2 and Lyn kinase in cell culture (PMID: 23696637). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL C384R CBL mutant CBL inact mut CBL C384R |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278220T>C |
cDNA | c.1150T>C |
Protein | p.C384R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278220T>C | c.1150T>C | p.C384R | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278220T>C | c.1150T>C | p.C384R | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278220T>C | c.1150T>C | p.C384R | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278220T>C | c.1150T>C | p.C384R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL C384R | loss of function | FLT3 Inhibitor |