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Gene ARID1A
Variant Q2039fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions ARID1A Q2039fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2039 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Q2039fs 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 Q2039fs

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Transcript NM_006015.6
gDNA chr1:g.(26780012_26780013)
cDNA c.(6115_6114)
Protein p.Q2039fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.(26780012_26780013) c.(6115_6114) p.Q2039fs RefSeq GRCh38/hg38
NM_006015.5 chr1:g.(26780012_26780013) c.(6115_6114) p.Q2039fs RefSeq GRCh38/hg38

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