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Gene ARID2
Variant R1273*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions ARID2 R1273* results in a premature truncation of the Arid2 protein at amino acid 1273 of 1835 (UniProt.org). R1273* fails to repress Snail, as indicated by increased expression and promoter activity of Snail, and results in failure to interact with Dnmt1, decreased DNMT1-mediated promoter methylation of Snail, and decreased inhibition of migration and invasion in cultured cells (PMID: 32071245).
Associated Drug Resistance
Category Variants Paths

ARID2 mutant ARID2 inact mut ARID2 R1273*

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Transcript NM_152641.4
gDNA chr12:g.45851940C>T
cDNA c.3817C>T
Protein p.R1273*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_152641.4 chr12:g.45851940C>T c.3817C>T p.R1273* RefSeq GRCh38/hg38
NM_001347839.2 chr12:g.45851940C>T c.3817C>T p.R1273* RefSeq GRCh38/hg38
XM_006719272.4 chr12:g.45851940C>T c.3817C>T p.R1273* RefSeq GRCh38/hg38
XM_047428489.1 chr12:g.45851940C>T c.3817C>T p.R1273* RefSeq GRCh38/hg38
NM_001347839.1 chr12:g.45851940C>T c.3817C>T p.R1273* RefSeq GRCh38/hg38
NM_152641.3 chr12:g.45851940C>T c.3817C>T p.R1273* 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

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Molecular Profile Protein Effect Treatment Approaches
ARID2 R1273* loss of function