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 | SMARCB1 |
Variant | Q318* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | SMARCB1 Q318* results in a premature truncation of the Smarcb1 protein at amino acid 318 of 385 (UniProt.org). Q318* confers a loss of function to Smarcb1 as demonstrated by cytoplasmic localization and failure to induce senescence in culture (PMID: 34003336). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 inact mut SMARCB1 Q318* |
Transcript | NM_003073.5 |
gDNA | chr22:g.23825381C>T |
cDNA | c.952C>T |
Protein | p.Q318* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003073.4 | chr22:g.23825381C>T | c.952C>T | p.Q318* | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23825381C>T | c.952C>T | p.Q318* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|