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B2M T93Hfs*2 - Gene Variant Detail

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Gene B2M
Variant T93Hfs*2
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions B2M T93Hfs*2 indicates a shift in the reading frame starting at amino acid 93 and terminating 2 residues downstream causing a premature truncation of the 119 amino acid B2m protein (UniProt.org). T93Hfs*2 has been identified in sequencing studies (PMID: 31008436), but has not been biochemically characterized and therefore, its effect on B2m protein function is unknown (PubMed, Jan 2023).
Associated Drug Resistance
Category Variants Paths

B2M mutant B2M T93fs B2M T93Hfs*2

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Transcript NM_004048.4
gDNA chr15:g.44715631dupC
cDNA c.276dupC
Protein p.T93Hfs*2
Source Database RefSeq
Genome Build 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.