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 | 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, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL M469I |
Transcript | NM_005188.4 |
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_005188.3 | chr11:g.119278689G>C | c.1407G>C | p.M469I | RefSeq | GRCh38/hg38 |
NM_005188.4 | 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 | 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 |
---|