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Gene | APC |
Variant | A1508V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC A1508V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1508V has been identified in sequencing studies (PMID: 20569184), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC A1508V |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840117C>T |
cDNA | c.4523C>T |
Protein | p.A1508V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407457.1 | chr5:g.112840366C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112840366C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001407472.1 | chr5:g.112841269C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001407471.1 | chr5:g.112841269C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112840366C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112840366C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112840117C>T | c.4523C>T | p.A1508V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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