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Gene | ARID1A |
Variant | M1318fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A M1318fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1318 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). M1318fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1318 (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 M1318fs |
Transcript | NM_006015.6 |
gDNA | chr1:g.(26773664_26773665) |
cDNA | c.(3952_3951) |
Protein | p.M1318fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.(26773664_26773665) | c.(3952_3951) | p.M1318fs | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.(26773664_26773665) | c.(3952_3951) | p.M1318fs | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.(26773664_26773665) | c.(3952_3951) | p.M1318fs | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.(26773664_26773665) | c.(3952_3951) | p.M1318fs | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.(26773664_26773665) | c.(3952_3951) | p.M1318fs | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.(26773664_26773665) | c.(3952_3951) | p.M1318fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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