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| Gene | APC |
| Variant | V2194fs |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | APC V2194fs results in a change in the amino acid sequence of the Apc protein beginning at aa 2194 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). V2194fs has been identified in the scientific literature (PMID: 32923851, PMID: 33969073), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
APC mutant APC V2194fs |
| Transcript | NM_000038.6 |
| gDNA | chr5:g.(112842173_112842174) |
| cDNA | c.(6580_6579) |
| Protein | p.V2194fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001407450.1 | chr5:g.(112842173_112842174) | c.(6580_6579) | p.V2194fs | RefSeq | GRCh38/hg38 |
| NM_000038.6 | chr5:g.(112842173_112842174) | c.(6580_6579) | p.V2194fs | RefSeq | GRCh38/hg38 |
| NM_001354895.2 | chr5:g.(112842173_112842174) | c.(6580_6579) | p.V2194fs | RefSeq | GRCh38/hg38 |
| NM_001127510.3 | chr5:g.(112842173_112842174) | c.(6580_6579) | p.V2194fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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