Gene Variant Detail

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Gene APC
Variant E1317Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC E1317Q lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1317Q has been identified in the scientific literature (PMID: 14578138, PMID: 32087273, PMID: 33864517), 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 E1317Q

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Transcript NM_000038.6
gDNA chr5:g.112839543G>C
cDNA c.3949G>C
Protein p.E1317Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354902.1 chr5:g.112839816G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001354899.1 chr5:g.112839627G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001354899.2 chr5:g.112839627G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_000038 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.112839816G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38
NM_001127510 chr5:g.112839543G>C c.3949G>C p.E1317Q RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
APC E1317Q unknown