Gene Variant Detail

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Gene APC
Variant S2497L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC S2497L does not lie within any known functional domains of the Apc protein (UniProt.org). S2497L has been identified in sequencing studies (PMID: 24728327), 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 S2497L

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Transcript NM_000038.5
gDNA chr5:g.112843084C>T
cDNA c.7490C>T
Protein p.S2497L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354897.1 chr5:g.112843053_112843054delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38
NM_001127510 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001354901.1 chr5:g.112843261C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_000038 chr5:g.112843084C>T c.7490C>T p.S2497L 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
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries