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Gene ARID1A
Variant Q393fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A Q393fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 393 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q393fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q393 (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 Q393fs

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Transcript NM_006015.6
gDNA chr1:g.(26729689_26729690)
cDNA c.(1177_1176)
Protein p.Q393fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_139135.3 chr1:g.(26729689_26729690) c.(1177_1176) p.Q393fs RefSeq GRCh38/hg38
NM_006015.6 chr1:g.(26729689_26729690) c.(1177_1176) p.Q393fs RefSeq GRCh38/hg38
NM_139135 chr1:g.(26729689_26729690) c.(1177_1176) p.Q393fs RefSeq GRCh38/hg38
NM_006015.5 chr1:g.(26729689_26729690) c.(1177_1176) p.Q393fs RefSeq GRCh38/hg38
NM_006015 chr1:g.(26729689_26729690) c.(1177_1176) p.Q393fs RefSeq GRCh38/hg38
NM_139135.4 chr1:g.(26729689_26729690) c.(1177_1176) p.Q393fs RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References