ARID1A P478del - Gene Variant Detail

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Gene ARID1A
Variant P478del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions ARID1A P478del results in the deletion of an amino acid of the Arid1a protein at amino acid 478 (UniProt.org). P478del has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2025).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A P478del

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Transcript NM_006015.6
gDNA chr1:g.26731234_26731236delCTC
cDNA c.1433_1435delCTC
Protein p.P478delP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.5 chr1:g.26731234_26731236delCTC c.1433_1435delCTC p.P478del RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26731234_26731236delCTC c.1433_1435delCTC p.P478delP RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26731234_26731236delCTC c.1433_1435delCTC p.P478delP RefSeq GRCh38/hg38

Filtering

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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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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