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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, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC L2253I

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Transcript NM_000038.6
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_001354895.2 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38
NM_000038.6 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
NM_001354895.1 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38
NM_001127510 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112842351C>A c.6757C>A p.L2253I RefSeq GRCh38/hg38

Filtering

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  • 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries