Gene Variant Detail

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Gene APC
Variant E129Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org). E129Q has been identified in sequencing studies (PMID: 24728327, PMID: 31703593), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2022).
Associated Drug Resistance
Category Variants Paths

APC mutant APC E129Q

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Transcript NM_000038.5
gDNA chr5:g.112767353G>C
cDNA c.385G>C
Protein p.E129Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112767353G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112767353G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112767353G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_000038 chr5:g.112767353G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001354899.1 chr5:g.112767353G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112767353G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001354898.1 chr5:g.112775666G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001354904.1 chr5:g.112775666G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001127510 chr5:g.112767353G>C c.385G>C p.E129Q RefSeq GRCh38/hg38
NM_001354896.1 chr5:g.112767353G>C c.385G>C p.E129Q 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References