| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 2643 |
Name | GCH1 |
Synonymous | DYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B;GTP cyclohydrolase 1;GCH1;GTP cyclohydrolase 1 |
Definition | GTP cyclohydrolase I|GTP-CH-I|dystonia 14|guanosine 5'-triphosphate cyclohydrolase I |
Position | 14q22.1-q22.2 |
Gene Type | protein-coding |
Gene Mutation: | GWAS results PAH samples Lung cancer |
GWAS results [Top] | ||
There is no record for GCH1 | ||
Lung cancer [Top] | ||
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
p.S100L; chr14:55369083-55369083 |
lung | squamous_cell_carcinoma; carcinoma |
p.E183Q; chr14:55312565-55312565 |
lung | adenocarcinoma; carcinoma |
p.R198L; chr14:55312519-55312519 |
lung | squamous_cell_carcinoma; carcinoma |
p.R198R; chr14:55312518-55312518 |
lung | squamous_cell_carcinoma; carcinoma |
p.R235L; chr14:55310784-55310784 |
lung | adenocarcinoma; carcinoma |
p.L231M; chr14:55310797-55310797 |
lung | adenocarcinoma; carcinoma |
p.R198L; chr14:55312518-55312519 |
lung | squamous_cell_carcinoma; carcinoma |