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Gene | SMARCE1 |
Variant | W104* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCE1 W104* results in a premature truncation of the Smarce1 protein at amino acid 104 of 411 (UniProt.org). W104* has not been characterized in the scientific literature and therefore, its effect on Smarce1 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCE1 mutant SMARCE1 W104* |
Transcript | NM_003079.5 |
gDNA | chr17:g.40636453C>T |
cDNA | c.311G>A |
Protein | p.W104* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_003079.5 | chr17:g.40636453C>T | c.311G>A | p.W104* | RefSeq | GRCh38/hg38 |
NM_003079.4 | chr17:g.40636453C>T | c.311G>A | p.W104* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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