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Gene ARID1B
Variant R1062*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1B R1062* results in a premature truncation of the Arid1b protein at amino acid 1062 of 2236 (UniProt.org). R1062* is predicted to confer a loss of function on Arid1b, as the corresponding variant in an alternate isoform (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 R1062*

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Transcript NM_017519.2
gDNA chr6:g.157181056C>T
cDNA c.3184C>T
Protein p.R1062*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_017519.2 chr6:g.157181056C>T c.3184C>T p.R1062* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
ARID1B R1062* loss of function - predicted