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 | P417H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL P417H lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P417H has been identified in sequencing studies (PMID: 27011036, PMID: 23010802), 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 exon9 CBL P417H |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278532C>A |
cDNA | c.1250C>A |
Protein | p.P417H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278532C>A | c.1250C>A | p.P417H | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278532C>A | c.1250C>A | p.P417H | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278532C>A | c.1250C>A | p.P417H | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278532C>A | c.1250C>A | p.P417H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL P417H | unknown |