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Gene | ARID1A |
Variant | Q766Pfs*51 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A Q766Pfs*51 indicates a shift in the reading frame starting at amino acid 766 and terminating 51 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q766Pfs*51 has not been characterized, however, due to the effects of other truncation mutations downstream of Q766 (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 Q766Pfs*51 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26762196dupC |
cDNA | c.2296dupC |
Protein | p.Q766Pfs*51 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.26762196dupC | c.2296dupC | p.Q766Pfs*51 | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26762196dupC | c.2296dupC | p.Q766Pfs*51 | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26762196dupC | c.2296dupC | p.Q766Pfs*51 | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26762196dupC | c.2296dupC | p.Q766Pfs*51 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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