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Gene APC
Variant A1296V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC A1296V lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1296V has been identified in sequencing studies (PMID: 10666372), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC A1296V

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Transcript NM_000038.6
gDNA chr5:g.112839481C>T
cDNA c.3887C>T
Protein p.A1296V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038.5 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_000038 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839481C>T c.3887C>T p.A1296V RefSeq 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.
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Molecular Profile Protein Effect Treatment Approaches
APC A1296V unknown