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Gene | ARID1A |
Variant | L2117fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A L2117fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2117 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). L2117fs has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A L2117fs |
Transcript | NM_006015.6 |
gDNA | chr1:g.(26780246_26780247) |
cDNA | c.(6349_6348) |
Protein | p.L2117fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.(26780246_26780247) | c.(6349_6348) | p.L2117fs | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.(26780246_26780247) | c.(6349_6348) | p.L2117fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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