Gene Variant Detail

Gene APC
Variant L2253I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC L2253I does not lie within any known functional domains of the Apc protein (UniProt.org). L2253I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jan 2019).
Associated Drug Resistance

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Transcript NM_000038
gDNA chr5:g.112842351C>A
cDNA c.6757C>A
Protein p.L2253I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38
NM_000038 chr5:g.112842351C>A c.6757C>A p.L2253I 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 L2253I unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References