Gene Variant Detail

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Gene ARID1A
Variant P94Lfs*7
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A P94Lfs*7 indicates a shift in the reading frame starting at amino acid 94 and terminating 7 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). P94Lfs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of P94 (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 P94Lfs*7

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Transcript NM_006015.6
gDNA chr1:g.26696683_26696684insTCCCCCCCCCCCCCCCATAA
cDNA c.280_281insTCCCCCCCCCCCCCCCATAA
Protein p.P94Lfs*7
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_139135.3 chr1:g.26696683_26696684insTCCCCCCCCCCCCCCCATAA c.280_281insTCCCCCCCCCCCCCCCATAA p.P94Lfs*7 RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26696683_26696684insTCCCCCCCCCCCCCCCATAA c.280_281insTCCCCCCCCCCCCCCCATAA p.P94Lfs*7 RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26696683_26696684insTCCCCCCCCCCCCCCCATAA c.280_281insTCCCCCCCCCCCCCCCATAA p.P94Lfs*7 RefSeq GRCh38/hg38
NM_139135 chr1:g.26696683_26696684insTCCCCCCCCCCCCCCCGTGA c.280_281insTCCCCCCCCCCCCCCCGTGA p.P94Lfs*7 RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26696683_26696684insTCCCCCCCCCCCCCCCATAA c.280_281insTCCCCCCCCCCCCCCCATAA p.P94Lfs*7 RefSeq GRCh38/hg38
NM_006015 chr1:g.26696683_26696684insTCCCCCCCCCCCCCCCGTGA c.280_281insTCCCCCCCCCCCCCCCGTGA p.P94Lfs*7 RefSeq GRCh38/hg38

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