ARID1A Y2254fs - Gene Variant Detail

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Gene ARID1A
Variant Y2254fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions ARID1A Y2254fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2254 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y2254fs has been identified in sequencing studies (PMID: 22653804, PMID: 30851247), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A Y2254fs

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Transcript NM_006015.6
gDNA chr1:g.(26780657_26780658)
cDNA c.(6760_6759)
Protein p.Y2254fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015.6 chr1:g.(26780657_26780658) c.(6760_6759) p.Y2254fs RefSeq GRCh38/hg38
NM_006015 chr1:g.(26780657_26780658) c.(6760_6759) p.Y2254fs RefSeq GRCh38/hg38
NM_006015.5 chr1:g.(26780657_26780658) c.(6760_6759) p.Y2254fs 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
ARID1A Y2254fs unknown