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 B2M
Variant R117*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions B2M R117* results in a premature truncation of the B2m protein at amino acid 117 of 119 (UniProt.org). R117* is associated with decreased B2m expression in patient samples (PMID: 31008436), but has not been biochemically characterized and therefore, its effect on B2m protein function is unknown (PubMed, Oct 2023).
Associated Drug Resistance
Category Variants Paths

B2M mutant B2M R117*

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_004048.4
gDNA chr15:g.44716331C>T
cDNA c.349C>T
Protein p.R117*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004048.4 chr15:g.44716331C>T c.349C>T p.R117* RefSeq GRCh38/hg38
NM_004048 chr15:g.44716331C>T c.349C>T p.R117* RefSeq GRCh38/hg38
NM_004048.2 chr15:g.44716331C>T c.349C>T p.R117* 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