Gene Variant Detail

Gene APC
Variant I1164fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC I1164fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1164 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1164fs has not been characterized, however Apc truncation mutants downstream of I1164 are inactivating (PMID: 18199528, PMID: 10346819), thus, I1164fs is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.(112839083_112839084)
cDNA c.(3490_3489)
Protein p.I1164fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839083_112839084) c.(3490_3489) p.I1164fs 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 I1164fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC I1164fs colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, IWR-1 inhibited growth of a patient-derived colorectal cancer cell line harboring APC I1164fs in culture (PMID: 28179481). 28179481
APC I1164fs colorectal cancer sensitive G007-LK Preclinical - Patient cell culture Actionable In a preclinical study, G007-LK inhibited growth of a patient-derived colorectal cancer cell line harboring APC I1164fs in culture (PMID: 28179481). 28179481