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Gene ARID1B
Variant R1075*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions ARID1B R1075* (corresponds to R1062* in the canonical isoform) results in a premature truncation of the Arid1b protein at amino acid 1075 of 2236 (UniProt.org). R1075* results in decreased protein stability, reduced association with chromatin, and impaired cranial neural crest cell formation likely due to aberrant NANOG/SOX2 activity in patient-derived cells (PMID: 34753942).
Associated Drug Resistance
Category Variants Paths

ARID1B mutant ARID1B inact mut ARID1B R1075*

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Transcript NM_020732.3
gDNA chr6:g.157181056C>T
cDNA c.3223C>T
Protein p.R1075*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047419155.1 chr6:g.157150777_157150779delCGCinsTGA c.3223_3225delCGCinsTGA p.R1075* RefSeq GRCh38/hg38
XM_017011105.3 chr6:g.157150777_157150779delCGCinsTGA c.3223_3225delCGCinsTGA p.R1075* RefSeq GRCh38/hg38
XM_011535988.4 chr6:g.157207103A>T c.3223A>T p.R1075* RefSeq GRCh38/hg38
NM_020732.3 chr6:g.157181056C>T c.3223C>T p.R1075* RefSeq GRCh38/hg38
XM_011535984.3 chr6:g.157150777_157150779delCGCinsTGA c.3223_3225delCGCinsTGA p.R1075* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries