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Gene | APC |
Variant | A1446_Q1447insDIA |
Impact List | insertion |
Protein Effect | unknown |
Gene Variant Descriptions | APC A1446_Q1447insDIA results in the insertion of three amino acids in the Apc protein between amino acids 1446 and 1447 (UniProt.org). A1446_Q1447insDIA 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 A1446_Q1447insDIA |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839932_112839933insGACATCGCA |
cDNA | c.4338_4339insGACATCGCA |
Protein | p.A1446_Q1447insDIA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839932_112839933insGACATCGCA | c.4338_4339insGACATCGCA | p.A1446_Q1447insDIA | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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