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Gene | SMARCB1 |
Variant | R377C |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | SMARCB1 R377C does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). R377C results in decreased interactions in an interactome analysis and increased proliferation in culture (PMID: 30108113), and therefore, is predicted to lead to a loss Smarcb1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 inact mut SMARCB1 R377C |
Transcript | NM_003073.5 |
gDNA | chr22:g.23834151C>T |
cDNA | c.1129C>T |
Protein | p.R377C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003073 | chr22:g.23834151C>T | c.1129C>T | p.R377C | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23834151C>T | c.1129C>T | p.R377C | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23834151C>T | c.1129C>T | p.R377C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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