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Gene | ARID1A |
Variant | A1682fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A A1682fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1682 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). A1682fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1682 (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 A1682fs |
Transcript | NM_006015.6 |
gDNA | chr1:g.(26775626_26775627) |
cDNA | c.(5044_5043) |
Protein | p.A1682fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.6 | chr1:g.(26775626_26775627) | c.(5044_5043) | p.A1682fs | RefSeq | GRCh38/hg38 |
NM_006015.5 | chr1:g.(26775626_26775627) | c.(5044_5043) | p.A1682fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A A1682fs | loss of function - predicted | EZH2 inhibitor |