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Gene APC
Variant A1347T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC A1347T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1347T has been identified in sequencing studies (PMID: 22622578, PMID: 25343854), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC A1347T

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Transcript NM_000038.6
gDNA chr5:g.112839633G>A
cDNA c.4039G>A
Protein p.A1347T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839633G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.112840785G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.112840785G>A c.4039G>A p.A1347T RefSeq GRCh38/hg38
NM_000038 chr5:g.112839633G>A c.4039G>A p.A1347T 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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Molecular Profile Protein Effect Treatment Approaches
APC A1347T unknown