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Gene | APC |
Variant | D962fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC D962fs results in a change in the amino acid sequence of the Apc protein beginning at aa 962 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D962fs has not been characterized, however, due to the effects of other truncation mutations downstream of D962 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC D962fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112838477_112838478) |
cDNA | c.(2884_2883) |
Protein | p.D962fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.(112838477_112838478) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112838477_112838478) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_001354900.2 | chr5:g.(112838600_112838601) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112838477_112838478) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.(112838561_112838562) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112838477_112838478) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112838477_112838478) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112838477_112838478) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112838477_112838478) | c.(2884_2883) | p.D962fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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