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 | L281H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL L281H lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). L281H has been identified in sequencing studies (PMID: 22495314), 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 L281H |
Transcript | NM_005188.4 |
gDNA | chr11:g.119274926T>A |
cDNA | c.842T>A |
Protein | p.L281H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119274926T>A | c.842T>A | p.L281H | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119274926T>A | c.842T>A | p.L281H | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119274926T>A | c.842T>A | p.L281H | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119274926T>A | c.842T>A | p.L281H | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|