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 | H398Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL H398Y lies with the RING-type zinc finger domain of the Cbl protein (UniProt.org). H398Y results in a loss of ubiquitin ligase activity and is transforming in culture (PMID: 19387008). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL H398Y CBL mutant CBL inact mut CBL H398Y |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278262C>T |
cDNA | c.1192C>T |
Protein | p.H398Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278262C>T | c.1192C>T | p.H398Y | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278262C>T | c.1192C>T | p.H398Y | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278262C>T | c.1192C>T | p.H398Y | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278262C>T | c.1192C>T | p.H398Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|