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| Gene | ARID1A |
| Variant | P135Lfs*96 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A P135Lfs*96 indicates a shift in the reading frame starting at amino acid 135 and terminating 96 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P135Lfs*96 has not been characterized, however, due to the effects of other truncation mutations downstream of P135 (PMID: 26069190, PMID: 29736026), is predicted to lead to a loss of Arid1a protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A P135Lfs*96 |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26696807_26696810delCTCC |
| cDNA | c.404_407delCTCC |
| Protein | p.P135Lfs*96 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_139135 | chr1:g.26696807_26696810delCTCC | c.404_407delCTCC | p.P135Lfs*96 | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26696807_26696810delCTCC | c.404_407delCTCC | p.P135Lfs*96 | RefSeq | GRCh38/hg38 |
| NM_006015 | chr1:g.26696807_26696810delCTCC | c.404_407delCTCC | p.P135Lfs*96 | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.26696807_26696810delCTCC | c.404_407delCTCC | p.P135Lfs*96 | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26696807_26696810delCTCC | c.404_407delCTCC | p.P135Lfs*96 | RefSeq | GRCh38/hg38 |
| NM_139135.3 | chr1:g.26696807_26696810delCTCC | c.404_407delCTCC | p.P135Lfs*96 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ARID1A P135Lfs*96 | loss of function - predicted | EZH2 inhibitor |