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Gene | APC |
Variant | S1465fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC S1465fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1465 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1465fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1465 (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 S1465fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839986_112839987) |
cDNA | c.(4393_4392) |
Protein | p.S1465fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839986_112839987) | c.(4393_4392) | p.S1465fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC S1465fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |