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Gene | ARID1A |
Variant | N2109Ffs*37 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | ARID1A N2109Ffs*37 indicates a shift in the reading frame starting at amino acid 2109 and terminating 37 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). N2109Ffs*37 has been identified in sequencing studies (PMID: 32546937), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A N2109Ffs*37 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26780222_26780223insTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA |
cDNA | c.6324_6325insTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA |
Protein | p.N2109Ffs*37 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26780222_26780223insTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA | c.6324_6325insTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA | p.N2109Ffs*37 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26780222_26780223insTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA | c.6324_6325insTTCCCCCCCCCCCCCCCCCCCCCCCCCCCCAA | p.N2109Ffs*37 | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26780221_26780222insGTTCCCCCCCCCCCCCCCCCCCCCCCCCCCTG | c.6323_6324insGTTCCCCCCCCCCCCCCCCCCCCCCCCCCCTG | p.N2109Ffs*37 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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