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Gene ARID1A
Variant Q546Rfs*73
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1A Q546Rfs*73 indicates a shift in the reading frame starting at amino acid 546 and terminating 73 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). Q546Rfs*73 has not been characterized, however, due to the effects of other truncation mutations downstream of Q546 (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 Q546Rfs*73

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Transcript NM_006015.6
gDNA chr1:g.26731438delA
cDNA c.1637delA
Protein p.Q546Rfs*73
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006015 chr1:g.26731437delC c.1636delC p.Q546Rfs*73 RefSeq GRCh38/hg38
NM_139135.3 chr1:g.26731438delA c.1637delA p.Q546Rfs*73 RefSeq GRCh38/hg38
NM_006015.5 chr1:g.26731438delA c.1637delA p.Q546Rfs*73 RefSeq GRCh38/hg38
NM_006015.6 chr1:g.26731438delA c.1637delA p.Q546Rfs*73 RefSeq GRCh38/hg38
NM_139135 chr1:g.26731437delC c.1636delC p.Q546Rfs*73 RefSeq GRCh38/hg38
NM_139135.4 chr1:g.26731438delA c.1637delA p.Q546Rfs*73 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.
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Molecular Profile Protein Effect Treatment Approaches
ARID1A Q546Rfs*73 loss of function - predicted EZH2 inhibitor