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Gene | APC |
Variant | Y935fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC Y935fs results in a change in the amino acid sequence of the Apc protein beginning at aa 935 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Y935fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y935 (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 Y935fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112838396_112838397) |
cDNA | c.(2803_2802) |
Protein | p.Y935fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.(112838396_112838397) | c.(2803_2802) | p.Y935fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112838396_112838397) | c.(2803_2802) | p.Y935fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112838396_112838397) | c.(2803_2802) | p.Y935fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112838396_112838397) | c.(2803_2802) | p.Y935fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112838396_112838397) | c.(2803_2802) | p.Y935fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112838396_112838397) | c.(2803_2802) | p.Y935fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112838396_112838397) | c.(2803_2802) | p.Y935fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC Y935fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |