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Gene | APC |
Variant | S590N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC S590N lies within ARM repeat 3 of the Apc protein (UniProt.org). S590N has been identified in sequencing studies (PMID: 28002797), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC S590N |
Transcript | NM_000038.6 |
gDNA | chr5:g.112834976G>A |
cDNA | c.1769G>A |
Protein | p.S590N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407454.1 | chr5:g.112837612G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001407456.1 | chr5:g.112837612G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.112838211_112838212delTCinsAA | c.1768_1769delTCinsAA | p.S590N | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001407455.1 | chr5:g.112837612G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.112838211_112838212delTCinsAA | c.1768_1769delTCinsAA | p.S590N | RefSeq | GRCh38/hg38 |
NM_001407457.1 | chr5:g.112837612G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
NM_001354906.1 | chr5:g.112838211_112838212delTCinsAA | c.1768_1769delTCinsAA | p.S590N | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112834976G>A | c.1769G>A | p.S590N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC S590N | unknown |