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Gene B2M
Variant V69Wfs*34
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions B2M V69Wfs*34 indicates a shift in the reading frame starting at amino acid 69 and terminating 34 residues downstream causing a premature truncation of the 119 amino acid B2m protein (UniProt.org). V69Wfs*34, combined with S16Afs*27, demonstrates a loss of B2m protein expression via immunohistochemistry in a patient sample (PMID: 31008436), but has not been biochemically characterized and therefore, its effect on B2m protein function is unknown.
Associated Drug Resistance
Category Variants Paths

B2M mutant B2M V69fs B2M V69Wfs*34

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Transcript NM_004048.4
gDNA chr15:g.44715560delG
cDNA c.205delG
Protein p.V69Wfs*34
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005254549 chr15:g.44715560delG c.205delG p.V69Wfs*34 RefSeq GRCh38/hg38
XM_005254549.3 chr15:g.44715560delG c.205delG p.V69Wfs*34 RefSeq GRCh38/hg38
NM_004048 chr15:g.44715560delG c.205delG p.V69Wfs*34 RefSeq GRCh38/hg38
NM_004048.4 chr15:g.44715560delG c.205delG p.V69Wfs*34 RefSeq GRCh38/hg38
NM_004048.2 chr15:g.44715560delG c.205delG p.V69Wfs*34 RefSeq GRCh38/hg38
XM_005254549.4 chr15:g.44715560delG c.205delG p.V69Wfs*34 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References