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Gene | APC |
Variant | H2116R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC H2116R does not lie within any known functional domains of the Apc protein (UniProt.org). H2116R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC H2116R |
Transcript | NM_000038.6 |
gDNA | chr5:g.112841941A>G |
cDNA | c.6347A>G |
Protein | p.H2116R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.1 | chr5:g.112841941A>G | c.6347A>G | p.H2116R | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112841941A>G | c.6347A>G | p.H2116R | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112841941A>G | c.6347A>G | p.H2116R | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112841941A>G | c.6347A>G | p.H2116R | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112841941A>G | c.6347A>G | p.H2116R | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112841941A>G | c.6347A>G | p.H2116R | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112841941A>G | c.6347A>G | p.H2116R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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