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Gene | APC |
Variant | R640G |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R640G lies within ARM repeat 5 of the Apc protein (UniProt.org). R640G has not been biochemically characterized, however, the nucleotide change results in exon 14 skipping and the production of a truncated Apc protein (PMID: 19111562), and therefore, is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC R640G |
Transcript | NM_000038.6 |
gDNA | chr5:g.112835125C>G |
cDNA | c.1918C>G |
Protein | p.R640G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |