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Gene | ARID1A |
Variant | I1954Nfs*9 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A I1954Nfs*9 indicates a shift in the reading frame starting at amino acid 1954 and terminating 9 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). I1954Nfs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of I1954 (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 I1954fs ARID1A I1954Nfs*9 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26779758dupA |
cDNA | c.5860dupA |
Protein | p.I1954Nfs*9 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26779758dupA | c.5860dupA | p.I1954Nfs*9 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26779758dupA | c.5860dupA | p.I1954Nfs*9 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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