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 | P532S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL P532S lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P532S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL P532S |
Transcript | NM_005188.4 |
gDNA | chr11:g.119285219C>T |
cDNA | c.1594C>T |
Protein | p.P532S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119285219C>T | c.1594C>T | p.P532S | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119285219C>T | c.1594C>T | p.P532S | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119285219C>T | c.1594C>T | p.P532S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|