Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | APC |
Variant | W553* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC W553* results in a premature truncation of the Apc protein at amino acid 553 of 2843 (UniProt.org). W553* has not been characterized, however, due to the effects of other truncation mutations downstream of W553 (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 W553* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112828887G>A |
cDNA | c.1658G>A |
Protein | p.W553* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |