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Gene | APC |
Variant | A2690T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC A2690T lies within a region of the Apc protein necessary for interaction with DLG1 and MAPRE1 (UniProt.org). A2690T has been identified in sequencing studies (PMID: 24082139, PMID: 34622229), 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 A2690T |
Transcript | NM_000038.6 |
gDNA | chr5:g.112843662G>A |
cDNA | c.8068G>A |
Protein | p.A2690T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.1 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112843662G>A | c.8068G>A | p.A2690T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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