Gene Variant Detail

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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

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Transcript NM_000038.6
gDNA chr5:g.112835125C>G
cDNA c.1918C>G
Protein p.R640G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407450.1 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_001354906.2 chr5:g.112838361A>G c.1918A>G p.R640G RefSeq GRCh38/hg38
NM_001127510 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112838361A>G c.1918A>G p.R640G RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112838361A>G c.1918A>G p.R640G RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_000038 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112835125C>G c.1918C>G p.R640G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
APC R640G loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor