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Gene | CBL |
Variant | R788Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL R788Q lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R788Q has been identified in sequencing studies (PMID: 29057546, PMID: 26580448), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL R788Q |
Transcript | NM_005188.4 |
gDNA | chr11:g.119298469G>A |
cDNA | c.2363G>A |
Protein | p.R788Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119298469G>A | c.2363G>A | p.R788Q | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119298469G>A | c.2363G>A | p.R788Q | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119298469G>A | c.2363G>A | p.R788Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL R788Q | unknown |