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Gene | CBL |
Variant | P395A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL P395A lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P395A is predicted to confer a loss of function to the Cbl protein, as demonstrated by reduced Cbl activity in culture (PMID: 26676746). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL P395A CBL mutant CBL inact mut CBL P395A |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278253C>G |
cDNA | c.1183C>G |
Protein | p.P395A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278253C>G | c.1183C>G | p.P395A | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278253C>G | c.1183C>G | p.P395A | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278253C>G | c.1183C>G | p.P395A | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278253C>G | c.1183C>G | p.P395A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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