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Gene | APC |
Variant | D1422N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC D1422N lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422N has been identified in sequencing studies (PMID: 18632876), 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 D1422N |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839858G>A |
cDNA | c.4264G>A |
Protein | p.D1422N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.3 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_001407446.1 | chr5:g.112839774G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839858G>A | c.4264G>A | p.D1422N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC D1422N | unknown |