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Gene | APC |
Variant | S940L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC S940L does not lie within any known functional domains of the Apc protein (UniProt.org). S940L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC S940L |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838413C>T |
cDNA | c.2819C>T |
Protein | p.S940L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354899.2 | chr5:g.112838496_112838497delAGinsCT | c.2818_2819delAGinsCT | p.S940L | RefSeq | GRCh38/hg38 |
NM_001354905.1 | chr5:g.112838892_112838893delTCinsCT | c.2818_2819delTCinsCT | p.S940L | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_001354906.1 | chr5:g.112839261_112839262delTCinsCT | c.2818_2819delTCinsCT | p.S940L | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_001354905.2 | chr5:g.112838892_112838893delTCinsCT | c.2818_2819delTCinsCT | p.S940L | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112838496_112838497delAGinsCT | c.2818_2819delAGinsCT | p.S940L | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.112839261_112839262delTCinsCT | c.2818_2819delTCinsCT | p.S940L | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.112839261_112839262delTCinsCT | c.2818_2819delTCinsCT | p.S940L | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838413C>T | c.2819C>T | p.S940L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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