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Gene | APC |
Variant | G1312R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC G1312R lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). G1312R has been identified in sequencing studies (PMID: 27147599), 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 G1312R |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839528G>A |
cDNA | c.3934G>A |
Protein | p.G1312R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.3 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839528G>A | c.3934G>A | p.G1312R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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