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Gene | APC |
Variant | E853* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC E853* results in a premature truncation of the Apc protein at amino acid 853 of 2843 (UniProt.org). E853* has not been characterized, however, due to the effects of other truncation mutations downstream of E853 (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 E853* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838151G>T |
cDNA | c.2557G>T |
Protein | p.E853* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354906.1 | chr5:g.112839000G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.112839000G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.112839000G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC E853* | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |
APC E853* APC K1555* | ||
APC E853* APC T1556fs | ||
APC E853* APC T1556Nfs*3 |