ARID1A L2239P - Gene Variant Detail

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Gene ARID1A
Variant L2239P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ARID1A L2239P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). L2239P has been identified in sequencing studies (PMID: 32188081), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Dec 2024).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A L2239P

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Transcript NM_006015.6
gDNA chr1:g.26780614T>C
cDNA c.6716T>C
Protein p.L2239P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.26780614T>C c.6716T>C p.L2239P RefSeq GRCh38/hg38
NM_006015 chr1:g.26780614T>C c.6716T>C p.L2239P RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26780614T>C c.6716T>C p.L2239P 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References