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Gene | APC |
Variant | R1435fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R1435fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1435 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1435fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1435 (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 R1435fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839896_112839897) |
cDNA | c.(4303_4302) |
Protein | p.R1435fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.(112839980_112839981) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.(112839980_112839981) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839896_112839897) | c.(4303_4302) | p.R1435fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC R1435fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |