Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene ARID1A
Variant Q1519Pfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A Q1519Pfs*13 indicates a shift in the reading frame starting at amino acid 1519 and terminating 13 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q1519Pfs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of Q1519 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function.
Associated Drug Resistance
Category Variants Paths

ARID1A mutant ARID1A inact mut ARID1A Q1519fs ARID1A Q1519Pfs*13

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.

Transcript NM_006015.6
gDNA chr1:g.26774782dupC
cDNA c.4555dupC
Protein p.Q1519Pfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015 chr1:g.26774780_26774781insG c.4553_4554insG p.Q1519Pfs*13 RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26774782dupC c.4555dupC p.Q1519Pfs*13 RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26774782dupC c.4555dupC p.Q1519Pfs*13 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 Q1519Pfs*13 loss of function - predicted EZH2 inhibitor