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Gene | ARID1A |
Variant | A339Gfs*61 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ARID1A A339Gfs*61 indicates a shift in the reading frame starting at amino acid 339 and terminating 61 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A339Gfs*61 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 A339Gfs*61 |
Transcript | NM_006015.6 |
gDNA | chr1:g.26697418dupG |
cDNA | c.1015dupG |
Protein | p.A339Gfs*61 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |