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Gene APC
Variant R2204*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions APC R2204* results in a premature truncation of the Apc protein at amino acid 2204 of 2843 (UniProt.org). R2204* has been identified in sequencing studies (PMID: 26681737, PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC R2204*

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Transcript NM_000038.6
gDNA chr5:g.112842204C>T
cDNA c.6610C>T
Protein p.R2204*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407469.1 chr5:g.112842591A>T c.6610A>T p.R2204* RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112842507A>T c.6610A>T p.R2204* RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112842204C>T c.6610C>T p.R2204* RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112842204C>T c.6610C>T p.R2204* RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112842453_112842454delAGinsTA c.6610_6611delAGinsTA p.R2204* RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112842453_112842454delAGinsTA c.6610_6611delAGinsTA p.R2204* RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112842204C>T c.6610C>T p.R2204* RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112842204C>T c.6610C>T p.R2204* RefSeq GRCh38/hg38
NM_001407467.1 chr5:g.112842591A>T c.6610A>T p.R2204* RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112842453_112842454delAGinsTA c.6610_6611delAGinsTA p.R2204* RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112842453_112842454delAGinsTA c.6610_6611delAGinsTA p.R2204* RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112842507A>T c.6610A>T p.R2204* RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112842507A>T c.6610A>T p.R2204* RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112842204C>T c.6610C>T p.R2204* RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112842507A>T c.6610A>T p.R2204* RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112842204C>T c.6610C>T p.R2204* RefSeq GRCh38/hg38

Filtering

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