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Gene | CBL |
Variant | C396R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL C396R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C396R is predicted to confer a loss of function to the Cbl protein, as demonstrated by lack of Cbl activity in culture (PMID: 26676746). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL C396R CBL mutant CBL inact mut CBL C396R |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278256T>C |
cDNA | c.1186T>C |
Protein | p.C396R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278256T>C | c.1186T>C | p.C396R | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278256T>C | c.1186T>C | p.C396R | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278256T>C | c.1186T>C | p.C396R | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278256T>C | c.1186T>C | p.C396R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL C396R | loss of function - predicted | FLT3 Inhibitor |