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Gene | APC |
Variant | N1142Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC N1142Y lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1142Y has been identified in sequencing studies (PMID: 24983367), 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 N1142Y |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839018A>T |
cDNA | c.3424A>T |
Protein | p.N1142Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.112838964A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.112838964A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001354898.1 | chr5:g.112839093A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.112838964A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001354898.2 | chr5:g.112839093A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.112838964A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839018A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.112838964A>T | c.3424A>T | p.N1142Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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