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Gene | APC |
Variant | D1083E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC D1083E lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1083E has been identified in sequencing studies (PMID: 28576136), 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 D1083E |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838843T>G |
cDNA | c.3249T>G |
Protein | p.D1083E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354902.1 | chr5:g.112839116T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_001354902.2 | chr5:g.112839116T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838843T>G | c.3249T>G | p.D1083E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC D1083E | unknown |