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Gene B2M
Variant L13fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions B2M L13fs results in a change in the amino acid sequence of the B2m protein beginning at aa 13 of 119, likely resulting in premature truncation of the functional protein (UniProt.org). L13fs is predicted to confer a loss of function to the B2m protein as indicated by lack of MHC class I membrane localization (PMID: 29070816).
Associated Drug Resistance
Category Variants Paths

B2M mutant B2M inact mut B2M L13fs

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Transcript NM_004048.4
gDNA chr15:g.(44711582_44711583)
cDNA c.(37_36)
Protein p.L13fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005254549.3 chr15:g.(44711582_44711583) c.(37_36) p.L13fs RefSeq GRCh38/hg38
NM_004048.2 chr15:g.(44711582_44711583) c.(37_36) p.L13fs RefSeq GRCh38/hg38
NM_004048.4 chr15:g.(44711582_44711583) c.(37_36) p.L13fs RefSeq GRCh38/hg38
NM_004048 chr15:g.(44711582_44711583) c.(37_36) p.L13fs RefSeq GRCh38/hg38
XM_005254549.4 chr15:g.(44711582_44711583) c.(37_36) p.L13fs RefSeq GRCh38/hg38
XM_005254549 chr15:g.(44711582_44711583) c.(37_36) p.L13fs RefSeq GRCh38/hg38

Filtering

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  • 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