Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CBL |
Variant | L405R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL L405R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L405R has been identified in sequencing studies (PMID: 31107544), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL L405R |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278284T>G |
cDNA | c.1214T>G |
Protein | p.L405R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278284T>G | c.1214T>G | p.L405R | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278284T>G | c.1214T>G | p.L405R | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278284T>G | c.1214T>G | p.L405R | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278284T>G | c.1214T>G | p.L405R | RefSeq | GRCh38/hg38 |
XM_017018511 | chr11:g.119285318_119285319delTTinsAG | c.1213_1214delTTinsAG | p.L405R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|