| Gene ID | 471 |
| Symbol | ATIC |
| Synonymous | AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH |
| Full name | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
| Gene description | 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase|AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme|AICARFT/IMPCHASE|bifunctional purine biosynthesis protein PURH|epididymis secretory sperm binding protein Li 7 |
| Cytoband | 2q35 |
| Gene type | protein-coding |
| Synonymous | MIM:601731; HGNC:HGNC:794; Ensembl:ENSG00000138363; HPRD:03434; Vega:OTTHUMG00000133023 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1150C>T; p.L384F; 2:215338830-215338830 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1671G>A; p.A557A; 2:215349547-215349547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.421C>T; p.R141*; 2:215326028-215326028 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.101C>T; p.S34F; 2:215312579-215312579 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.872A>T; p.D291V; 2:215333407-215333407 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1071G>A; p.K357K; 2:215336097-215336097 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.324G>A; p.K108K; 2:215325274-215325274 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.78T>G; p.A26A; 2:215312556-215312556 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |