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Gene | SMARCB1 |
Variant | R370S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 R370S does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R370S has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 R370S |
Transcript | NM_003073.5 |
gDNA | chr22:g.23833695G>C |
cDNA | c.1110G>C |
Protein | p.R370S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003073.4 | chr22:g.23833695G>C | c.1110G>C | p.R370S | RefSeq | GRCh38/hg38 |
NM_003073 | chr22:g.23833695G>C | c.1110G>C | p.R370S | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23833695G>C | c.1110G>C | p.R370S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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