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Gene | SMARCB1 |
Variant | T381M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 T381M does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). T381M has been identified in sequencing studies (PMID: 29617669), 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 T381M |
Transcript | NM_003073.5 |
gDNA | chr22:g.23834164C>T |
cDNA | c.1142C>T |
Protein | p.T381M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003073.4 | chr22:g.23834164C>T | c.1142C>T | p.T381M | RefSeq | GRCh38/hg38 |
NM_001317946.1 | chr22:g.23833700C>T | c.1142C>T | p.T381M | RefSeq | GRCh38/hg38 |
NM_003073 | chr22:g.23834164C>T | c.1142C>T | p.T381M | RefSeq | GRCh38/hg38 |
NM_001317946.2 | chr22:g.23833700C>T | c.1142C>T | p.T381M | RefSeq | GRCh38/hg38 |
NM_001317946 | chr22:g.23833700C>T | c.1142C>T | p.T381M | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23834164C>T | c.1142C>T | p.T381M | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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