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Gene | APC |
Variant | E633* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC E633* results in a premature truncation of the Apc protein at amino acid 633 of 2843 (UniProt.org). E633* has not been characterized, however, due to the effects of other truncation mutations downstream of E633 (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 E633* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112835104G>T |
cDNA | c.1897G>T |
Protein | p.E633* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354898.2 | chr5:g.112837566G>T | c.1897G>T | p.E633* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112835104G>T | c.1897G>T | p.E633* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112835104G>T | c.1897G>T | p.E633* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112835104G>T | c.1897G>T | p.E633* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112835104G>T | c.1897G>T | p.E633* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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