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 ARID1B
Variant Q123*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ARID1B Q123* results in a premature truncation of the Arid1b protein at amino acid 123 of 2236 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q123* is predicted to lead to a loss of Arid1b protein function.
Associated Drug Resistance
Category Variants Paths

ARID1B mutant ARID1B inact mut ARID1B Q123*

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_017519.2
gDNA chr6:g.156778296C>T
cDNA c.367C>T
Protein p.Q123*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017011104.1 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_020732.3 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_017519 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011106.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011107 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011107.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011106 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_020732 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_011535984.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011105 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011103.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_005267069 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_011535984 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011104 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_017519.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
NM_001346813.1 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011105.2 chr6:g.156778296C>T c.367C>T p.Q123* RefSeq GRCh38/hg38
XM_017011103 chr6:g.156778296C>T c.367C>T p.Q123* 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries