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Gene | APC |
Variant | G1357fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC G1357fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1357 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). G1357fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1357 (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 G1357fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839662_112839663) |
cDNA | c.(4069_4068) |
Protein | p.G1357fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.3 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.(112839608_112839609) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001354901.1 | chr5:g.(112839839_112839840) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.(112839608_112839609) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001407453.1 | chr5:g.(112839839_112839840) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.(112839608_112839609) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001354901.2 | chr5:g.(112839839_112839840) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.(112839608_112839609) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839662_112839663) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.(112839608_112839609) | c.(4069_4068) | p.G1357fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC G1357fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |