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Gene | SMARCB1 |
Variant | Q368R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 Q368R does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). Q368R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 Q368R |
Transcript | NM_003073.5 |
gDNA | chr22:g.23833688A>G |
cDNA | c.1103A>G |
Protein | p.Q368R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003073 | chr22:g.23833688A>G | c.1103A>G | p.Q368R | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23833688A>G | c.1103A>G | p.Q368R | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23833688A>G | c.1103A>G | p.Q368R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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