Gene Variant Detail

Gene APC
Variant Q1429fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC Q1429fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1429 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Q1429fs has not been characterized, however Apc truncation mutants downstream of Q1429 are inactivating (PMID: 18199528) thus, Q1429fs is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.(112839878_112839879)
cDNA c.(4285_4284)
Protein p.Q1429fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.(112839878_112839879) c.(4285_4284) p.Q1429fs RefSeq GRCh38/hg38
NM_001127511 chr5:g.(112839932_112839933) c.(4285_4284) p.Q1429fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839878_112839879) c.(4285_4284) p.Q1429fs 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.
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Molecular Profile Protein Effect Treatment Approaches
APC Q1429fs loss of function - predicted
APC Q1429fs BRAF N581S ERBB2 L755S
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC Q1429fs BRAF N581S ERBB2 L755S rectum adenocarcinoma no benefit Fluorouracil + Leucovorin + Trastuzumab Case Reports/Case Series Actionable In a clinical case study, a rectal adenocarcinoma patient harboring APC Q1429fs, BRAF N581S, and ERBB2 L755S did not respond to Herceptin (trastuzumab) treatment in combination with Fluorouracil and Wellcovorin (leucovorin) (PMID: 27626067). 27626067