| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3119 |
Name | HLA-DQB1 |
Synonymous | CELIAC1|HLA-DQB|IDDM1;major histocompatibility complex, class II, DQ beta 1;HLA-DQB1;major histocompatibility complex, class II, DQ beta 1 |
Definition | HLA class II histocompatibility antigen, DQ beta 1 chain|MHC DQ beta|MHC class II DQ beta chain|MHC class II HLA-DQ beta glycoprotein|MHC class II antigen DQB1|MHC class II antigen HLA-DQ-beta-1|MHC class2 antigen|lymphocyte antigen |
Position | 6p21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HLA-DQB1 | ||
PCGP somatic mutation [Top] | ||
There is no record for HLA-DQB1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.596G>A; p.R199H; |
pancreas | carcinoma; adenocarcinoma |
c.777T>C; p.L259L; |
liver | carcinoma; hepatocellular_carcinoma |
c.773-4C>T; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.703G>A; p.V235I; |
bone | chondrosarcoma |
c.735T>C; p.L245L; |
liver | carcinoma |
c.407C>G; p.S136C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.189C>G; p.I63M; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.655G>T; p.E219*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.67G>T; p.A23S; |
breast | carcinoma |
c.44T>C; p.V15A; |
breast | carcinoma |
c.321G>A; p.L107L; |
breast | carcinoma |
c.535delC; p.I180fs*12; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.435C>T; p.N145N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.100G>A; p.D34N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.515C>T; p.A172V; |
large_intestine; colon | carcinoma; adenocarcinoma |