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Gene | APC |
Variant | D1636fs |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | APC D1636fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1636 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1636fs has been identified in sequencing studies (PMID: 36013219), 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 D1636fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112840499_112840500) |
cDNA | c.(4906_4905) |
Protein | p.D1636fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112840499_112840500) | c.(4906_4905) | p.D1636fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC D1636fs | unknown |