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Gene | ARID1A |
Variant | A339Lfs*24 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A A339Lfs*24 indicates a shift in the reading frame starting at amino acid 339 and terminating 24 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A339Lfs*24 has not been characterized, however, due to the effects of other truncation mutations downstream of A339 (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 A339Lfs*24 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26697418delG |
cDNA | c.1015delG |
Protein | p.A339Lfs*24 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135 | chr1:g.26697418delG | c.1015delG | p.A339Lfs*24 | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26697418delG | c.1015delG | p.A339Lfs*24 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26697418delG | c.1015delG | p.A339Lfs*24 | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.26697418delG | c.1015delG | p.A339Lfs*24 | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26697418delG | c.1015delG | p.A339Lfs*24 | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26697418delG | c.1015delG | p.A339Lfs*24 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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