| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2538 |
Name | G6PC |
Synonymous | G6PC1|G6PT|GSD1|GSD1a;glucose-6-phosphatase, catalytic subunit;G6PC;glucose-6-phosphatase, catalytic subunit |
Definition | G-6-Pase|G6Pase|G6Pase-alpha|glucose-6-phosphatase|glucose-6-phosphatase alpha |
Position | 17q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for G6PC | ||
PCGP somatic mutation [Top] | ||
There is no record for G6PC | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.750G>A; p.W250*; |
skin; arm | malignant_melanoma |
c.844G>A; p.E282K; |
NS | malignant_melanoma |
c.844G>A; p.E282K; |
NS | malignant_melanoma |
c.179A>C; p.K60T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.620A>G; p.K207R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1062G>T; p.K354N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1031G>A; p.C344Y; |
liver | carcinoma |
c.1071G>C; p.L357F; |
liver | carcinoma |
c.1011C>T; p.S337S; |
oesophagus | carcinoma; adenocarcinoma |
c.883C>T; p.R295C; |
oesophagus | carcinoma; adenocarcinoma |
c.922G>A; p.V308I; |
liver | carcinoma; hepatocellular_carcinoma |
c.347C>T; p.P116L; 17:38313072-38313072 |
breast | carcinoma; ductal_carcinoma |
c.628T>G; p.F210V; |
large_intestine; colon | carcinoma |
c.957G>T; p.E319D; |
lung | carcinoma; adenocarcinoma |
c.227A>G; p.K76R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.93C>G; p.I31M; |
prostate | carcinoma |
c.498_499insT; p.C167fs*37; |
liver | carcinoma |
c.69C>G; p.Y23*; |
liver | carcinoma |
c.304A>G; p.I102V; |
liver | carcinoma |
c.144C>A; p.P48P; |
prostate | adenoma |
c.78C>T; p.S26S; |
lung | carcinoma; adenocarcinoma |
c.910G>A; p.V304I; 17:38316805-38316805 |
ovary | carcinoma; serous_carcinoma |
c.189G>T; p.W63C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1031G>T; p.C344F; |
lung | carcinoma; squamous_cell_carcinoma |
c.678G>T; p.L226L; |
lung | carcinoma; squamous_cell_carcinoma |
c.764C>A; p.T255N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.58C>T; p.Q20*; |
lung | carcinoma; squamous_cell_carcinoma |
c.776C>A; p.A259D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.992C>T; p.A331V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.133G>A; p.V45I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.433A>G; p.T145A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.632T>G; p.L211R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.628T>G; p.F210V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.735C>T; p.C245C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.664G>A; p.G222R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.848G>A; p.S283N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.67T>A; p.Y23N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.220G>A; p.V74I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.559T>C; p.S187P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.112G>A; p.D38N; |
breast | carcinoma |
c.471G>T; p.L157F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.621G>T; p.K207N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1062G>T; p.K354N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1062G>T; p.K354N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1011C>T; p.S337S; |
breast | carcinoma |
c.857G>A; p.G286E; |
skin | malignant_melanoma |
c.152T>C; p.F51S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.797G>A; p.G266D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |