| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 27087 |
Name | B3GAT1 |
Synonymous | CD57|GLCATP|GLCUATP|HNK1|LEU7|NK-1|NK1;beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P);B3GAT1;beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) |
Definition | LEU7 antigen|UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1|glcUAT-P|glucuronosyltransferase P |
Position | 11q25 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for B3GAT1 | ||
PCGP somatic mutation [Top] | ||
There is no record for B3GAT1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.739C>A; p.P247T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.265G>T; p.V89L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.31G>A; p.V11I; 11:133762733-133762733 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.278A>T; p.Y93F; |
lung | carcinoma; small_cell_carcinoma |
c.144G>A; p.P48P; |
oesophagus | carcinoma; adenocarcinoma |
c.403C>T; p.R135C; |
large_intestine; colon | carcinoma |
c.630C>T; p.S210S; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.287C>A; p.P96Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.708G>T; p.G236G; |
lung | carcinoma; adenocarcinoma |
c.374G>T; p.R125L; |
lung | carcinoma; adenocarcinoma |
c.589_591delGAC; p.D197delD; |
lung | carcinoma; adenocarcinoma |
c.374G>T; p.R125L; |
lung | carcinoma; adenocarcinoma |
c.380C>T; p.T127M; |
lung | carcinoma; adenocarcinoma |
c.154G>A; p.D52N; |
skin; extremity | malignant_melanoma |
c.76C>A; p.Q26K; |
lung | carcinoma; small_cell_carcinoma |
c.298G>A; p.A100T; |
lung | carcinoma; squamous_cell_carcinoma |
c.31G>A; p.V11I; 11:133762733-133762733 |
ovary | carcinoma; serous_carcinoma |
c.676C>A; p.R226R; |
lung | carcinoma; adenocarcinoma |
c.655G>A; p.V219I; |
ovary | carcinoma; serous_carcinoma |
c.970A>T; p.K324*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.245C>T; p.T82M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.405C>T; p.R135R; |
lung | carcinoma; squamous_cell_carcinoma |
c.148G>A; p.G50S; |
lung | carcinoma; squamous_cell_carcinoma |
c.477C>T; p.R159R; |
lung | carcinoma; squamous_cell_carcinoma |
c.223C>A; p.R75R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.938G>A; p.R313Q; |
lung | carcinoma; adenocarcinoma |
c.343C>A; p.L115I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.323C>A; p.T108K; |
breast | carcinoma |
c.30C>T; p.I10I; |
breast | carcinoma |
c.522G>A; p.L174L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.404G>A; p.R135H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.404G>A; p.R135H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.654C>T; p.P218P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.822G>A; p.K274K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.686C>T; p.A229V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.88G>A; p.A30T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.955C>T; p.L319L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.471C>T; p.D157D; |
cervix | carcinoma; squamous_cell_carcinoma |
c.472G>A; p.A158T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.615C>T; p.F205F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.803G>A; p.R268Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.174G>A; p.T58T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.484C>T; p.R162C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.901G>A; p.A301T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.460C>A; p.L154M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.716T>C; p.V239A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.31G>A; p.V11I; 11:133762733-133762733 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.202C>T; p.R68C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.723G>A; p.W241*; |
skin; acral | malignant_melanoma |