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Gene ARID1A
Variant G1450fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A G1450fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1450 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1450fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1450 (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 G1450fs

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Transcript NM_006015.6
gDNA chr1:g.(26774574_26774575)
cDNA c.(4348_4347)
Protein p.G1450fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.(26774574_26774575) c.(4348_4347) p.G1450fs RefSeq GRCh38/hg38
NM_006015 chr1:g.(26774574_26774575) c.(4348_4347) p.G1450fs RefSeq GRCh38/hg38
NM_006015.6 chr1:g.(26774574_26774575) c.(4348_4347) p.G1450fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ARID1A G1450fs urinary bladder cancer sensitive Tulmimetostat Preclinical - Cell culture Actionable In a preclinical study, Tulmimetostat inhibited viability in 5/6 bladder cancer cell lines harboring ARID1A loss of function mutations including ARID1A G1450fs in culture (PMID: 38833522). 38833522