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APC T1301Pfs*4 - Gene Variant Detail

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Gene APC
Variant T1301Pfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC T1301Pfs*4 indicates a shift in the reading frame starting at amino acid 1301 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1301Pfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of T1301 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC T1301fs APC T1301Pfs*4

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Transcript NM_000038.6
gDNA chr5:g.112839495delA
cDNA c.3901delA
Protein p.T1301Pfs*4
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
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