B2M R117*
Gene Variant Detail

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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, Nov 2025).
Associated Drug Resistance
Category Variants Paths

B2M mutant B2M R117*

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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_004048.2 chr15:g.44716331C>T c.349C>T p.R117* RefSeq GRCh38/hg38
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

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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References