| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 632 |
Name | BGLAP |
Synonymous | bone gamma-carboxyglutamate (gla) protein;BGLAP;bone gamma-carboxyglutamate (gla) protein |
Definition | bone Gla protein|bone gamma-carboxyglutamate (gla) protein (osteocalcin)|gamma-carboxyglutamic acid-containing protein|osteocalcin |
Position | 1q22 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.79delG; p.G27fs*19; 1:156242567-156242567 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.291C>A; p.Y97*; 1:156243150-156243150 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.191C>T; p.P64L; 1:156243050-156243050 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.296C>T; p.P99L; 1:156243155-156243155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.68C>T; p.A23V; 1:156242556-156242556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.152G>A; p.R51H; 1:156242810-156242810 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.152G>A; p.R51H; 1:156242810-156242810 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.104C>T; p.A35V; 1:156242762-156242762 |
skin | malignant_melanoma | Substitution - Missense |
c.78C>T; p.S26S; 1:156242566-156242566 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.19C>A; p.L7I; 1:156242250-156242250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.234G>T; p.P78P; 1:156243093-156243093 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.123G>T; p.E41D; 1:156242781-156242781 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.284G>A; p.R95H; 1:156243143-156243143 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.251C>T; p.A84V; 1:156243110-156243110 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.118C>A; p.Q40K; 1:156242776-156242776 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |