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@jax.org

Gene ARID1A
Variant A35Gfs*76
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A A35Gfs*76 indicates a shift in the reading frame starting at amino acid 35 and terminating 76 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). A35Gfs*76 has not been characterized however, due to the effects of other truncation mutations downstream of A35 (PMID: 26069190, 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 A35Gfs*76

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.26696506dupG
cDNA c.103dupG
Protein p.A35Gfs*76
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_139135.3 chr1:g.26696506dupG c.103dupG p.A35Gfs*76 RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26696506dupG c.103dupG p.A35Gfs*76 RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26696506dupG c.103dupG p.A35Gfs*76 RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26696506dupG c.103dupG p.A35Gfs*76 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
ARID1A A35Gfs*76 cholangiocarcinoma no benefit Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, a cholangiocarcinoma patient-derived xenograft (PDX) cell line harboring ARID1A A35Gfs*76 was insensitive to Lynparza (olaparib) in culture (PMID: 36374558). 36374558
ARID1A A35Gfs*76 cholangiocarcinoma no benefit Pamiparib Preclinical - Patient cell culture Actionable In a preclinical study, a cholangiocarcinoma patient-derived xenograft (PDX) cell line harboring ARID1A A35Gfs*76 was insensitive to Pamiparib (BGB-290) in culture (PMID: 36374558). 36374558
ARID1A A35Gfs*76 cholangiocarcinoma no benefit Niraparib Preclinical - Patient cell culture Actionable In a preclinical study, a cholangiocarcinoma patient-derived xenograft (PDX) cell line harboring ARID1A A35Gfs*76 was insensitive to Zejula (niraparib) in culture (PMID: 36374558). 36374558