ARID1A L2279fs
Gene Variant Detail

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Gene ARID1A
Variant L2279fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions ARID1A L2279fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2279 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). L2279fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized and therefore, its effect on Arid1a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A L2279fs

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Transcript NM_006015.6
gDNA chr1:g.(26780732_26780733)
cDNA c.(6835_6834)
Protein p.L2279fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.(26780732_26780733) c.(6835_6834) p.L2279fs RefSeq GRCh38/hg38
NM_006015.6 chr1:g.(26780732_26780733) c.(6835_6834) p.L2279fs 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References