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Gene | APC |
Variant | L508F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC L508F lies within ARM repeat 2 of the Apc protein (UniProt.org). L508F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC L508F |
Transcript | NM_000038.6 |
gDNA | chr5:g.112827223G>T |
cDNA | c.1524G>T |
Protein | p.L508F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.3 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_001354898.1 | chr5:g.112827977_112827979delCTAinsTTT | c.1522_1524delCTAinsTTT | p.L508F | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
NM_001354898.2 | chr5:g.112827977_112827979delCTAinsTTT | c.1522_1524delCTAinsTTT | p.L508F | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112827223G>T | c.1524G>T | p.L508F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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