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 result in 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_000038.5
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_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_001127510.2 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_000038 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References