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Gene | ARID1A |
Variant | A1978Sfs*36 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A A1978Sfs*36 indicates a shift in the reading frame starting at amino acid 1978 and terminating 36 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A1978Sfs*36 has not been characterized, however, due to the effects of other truncation mutations downstream of A1978 (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 A1978Sfs*36 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26779830_26779833delGCCA |
cDNA | c.5932_5935delGCCA |
Protein | p.A1978Sfs*36 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26779830_26779833delGCCA | c.5932_5935delGCCA | p.A1978Sfs*36 | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26779829_26779832delTGCC | c.5931_5934delTGCC | p.A1978Sfs*36 | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26779830_26779833delGCCA | c.5932_5935delGCCA | p.A1978Sfs*36 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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