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Gene | APC |
Variant | E129Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org). E129Q has been identified in sequencing studies (PMID: 24728327, PMID: 31703593), 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 E129Q |
Transcript | NM_000038.6 |
gDNA | chr5:g.112767353G>C |
cDNA | c.385G>C |
Protein | p.E129Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354898.2 | chr5:g.112775666G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407459.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407458.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354904.1 | chr5:g.112775666G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354898.1 | chr5:g.112775666G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407460.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354903.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407451.1 | chr5:g.112775666G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407454.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354903.2 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354904.2 | chr5:g.112775666G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407467.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407452.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
NM_001407469.1 | chr5:g.112767353G>C | c.385G>C | p.E129Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC E129Q | unknown |