Gene Variant Detail

Gene APC
Variant L1488fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC L1488fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1488 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1488fs has not been characterized, however Apc truncation mutants downstream of L1488 are inactivating (PMID: 18199528) thus, L1488fs is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Transcript NM_000038
gDNA chr5:g.(112840055_112840056)
cDNA c.(4462_4461)
Protein p.L1488fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112840055_112840056) c.(4462_4461) p.L1488fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112840055_112840056) c.(4462_4461) p.L1488fs RefSeq GRCh38/hg38
NM_001127511 chr5:g.(112840109_112840110) c.(4462_4461) p.L1488fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Molecular Profile Protein Effect Treatment Approaches
APC L1488fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References