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Gene | APC |
Variant | R653K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC R653K lies within ARM repeat 5 of the Apc protein (UniProt.org). R653K has been identified in sequencing studies (PMID: 28179590, PMID: 18199528), 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 R653K |
Transcript | NM_000038.6 |
gDNA | chr5:g.112835165G>A |
cDNA | c.1958G>A |
Protein | p.R653K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.112835165G>A | c.1958G>A | p.R653K | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112835165G>A | c.1958G>A | p.R653K | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112835165G>A | c.1958G>A | p.R653K | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112835165G>A | c.1958G>A | p.R653K | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112835165G>A | c.1958G>A | p.R653K | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112835165G>A | c.1958G>A | p.R653K | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112835165G>A | c.1958G>A | p.R653K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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