APC R216* - Gene Variant Detail

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Gene APC
Variant R216*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions APC R216* results in a premature truncation of the Apc protein at amino acid 216 of 2843 (UniProt.org). R216* has not been characterized, however, due to the effects of other truncation mutations downstream of R216 (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 R216*

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Transcript NM_000038.6
gDNA chr5:g.112792446C>T
cDNA c.646C>T
Protein p.R216*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407454.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354899.2 chr5:g.112801279_112801280delAGinsTA c.646_647delAGinsTA p.R216* RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354899.1 chr5:g.112801279_112801280delAGinsTA c.646_647delAGinsTA p.R216* RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354906.2 chr5:g.112827194C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_000038 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407469.1 chr5:g.112801279_112801280delAGinsTA c.646_647delAGinsTA p.R216* RefSeq GRCh38/hg38
NM_001354896.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001127510 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112827194C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112827194C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112801279_112801280delAGinsTA c.646_647delAGinsTA p.R216* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001407452.1 chr5:g.112801279_112801280delAGinsTA c.646_647delAGinsTA p.R216* RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001354896.2 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112792446C>T c.646C>T p.R216* RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC R216* colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, a patient-derived colorectal cancer cell line harboring APC R216* demonstrated sensitivity to G007-LK in culture (PMID: 28179481). 28179481
APC R216* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, IWR-1 inhibited growth of a patient-derived colorectal cancer cell line harboring APC R216* in culture (PMID: 28179481). 28179481
APC R216* colorectal cancer sensitive G007-LK + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the addition of G007-LK to Mekinist (trametinib) treatment resulted in increased inhibition of viability compared to Mekinist (trametinib) alone in a colorectal cancer patient-derived cell line harboring APC R216* in culture (PMID: 37968472). 37968472