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Gene | ARID1A |
Variant | T979fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A T979fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 979 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). T979fs has not been characterized, however, due to the effects of other truncation mutations downstream of T979 (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 T979fs |
Transcript | NM_006015.6 |
gDNA | chr1:g.(26766512_26766513) |
cDNA | c.(2935_2934) |
Protein | p.T979fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_139135.4 | chr1:g.(26766512_26766513) | c.(2935_2934) | p.T979fs | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.(26766512_26766513) | c.(2935_2934) | p.T979fs | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.(26766512_26766513) | c.(2935_2934) | p.T979fs | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.(26766512_26766513) | c.(2935_2934) | p.T979fs | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.(26766512_26766513) | c.(2935_2934) | p.T979fs | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.(26766512_26766513) | c.(2935_2934) | p.T979fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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