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Gene | ARID1A |
Variant | T292Pfs*71 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A T292Pfs*71 indicates a shift in the reading frame starting at amino acid 292 and terminating 71 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). T292Pfs*71 has not been characterized, however, due to the effects of other truncation mutations downstream of T292 (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 T292fs ARID1A T292Pfs*71 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26697277delA |
cDNA | c.874delA |
Protein | p.T292Pfs*71 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26697277delA | c.874delA | p.T292Pfs*71 | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26697277delA | c.874delA | p.T292Pfs*71 | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26697277delA | c.874delA | p.T292Pfs*71 | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26697277delA | c.874delA | p.T292Pfs*71 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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