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@jax.org
Gene | CBL |
Variant | M469I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL M469I lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). M469I has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Feb 2021). |
Associated Drug Resistance |
Transcript | NM_005188.3 |
gDNA | chr11:g.119278689G>C |
cDNA | c.1407G>C |
Protein | p.M469I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278689G>C | c.1407G>C | p.M469I | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278689G>C | c.1407G>C | p.M469I | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278689G>C | c.1407G>C | p.M469I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL M469I | unknown |