| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 2706 | ||
Name | GJB2 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.56G>C; p.S19T; 13:20189526-20189526 |
bone; rib | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.186C>T; p.N62N; 13:20189396-20189396 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325G>A; p.G109R; 13:20189257-20189257 |
skin | malignant_melanoma | Substitution - Missense |
c.385G>A; p.E129K; 13:20189197-20189197 |
skin | malignant_melanoma | Substitution - Missense |
c.474C>T; p.Y158Y; 13:20189108-20189108 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.79G>A; p.V27I; 13:20189503-20189503 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.79G>A; p.V27I; 13:20189503-20189503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.420C>T; p.I140I; 13:20189162-20189162 |
skin | malignant_melanoma | Substitution - coding silent |
c.258G>T; p.T86T; 13:20189324-20189324 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.268C>T; p.L90L; 13:20189314-20189314 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.428G>A; p.R143Q; 13:20189154-20189154 |
pancreas | carcinoma | Substitution - Missense |
c.428G>A; p.R143Q; 13:20189154-20189154 |
pancreas | carcinoma | Substitution - Missense |
c.428G>A; p.R143Q; 13:20189154-20189154 |
pancreas | carcinoma | Substitution - Missense |
c.94C>T; p.R32C; 13:20189488-20189488 |
skin | malignant_melanoma | Substitution - Missense |
c.94C>T; p.R32C; 13:20189488-20189488 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.94C>T; p.R32C; 13:20189488-20189488 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.94C>T; p.R32C; 13:20189488-20189488 |
skin | malignant_melanoma | Substitution - Missense |
c.423C>G; p.F141L; 13:20189159-20189159 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.423C>G; p.F141L; 13:20189159-20189159 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.585G>A; p.M195I; 13:20188997-20188997 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.308_310delAGA; p.K103delK; 13:20189272-20189274 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.532G>A; p.V178M; 13:20189050-20189050 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.124G>T; p.E42*; 13:20189458-20189458 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.450C>A; p.F150L; 13:20189132-20189132 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.635A>G; p.Y212C; 13:20188947-20188947 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.671_672insA; p.P225fs*>3; 13:20188910-20188911 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.249C>T; p.F83F; 13:20189333-20189333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.341A>G; p.E114G; 13:20189241-20189241 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.31G>A; p.G11R; 13:20189551-20189551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.518C>T; p.P173L; 13:20189064-20189064 |
skin | malignant_melanoma | Substitution - Missense |
c.589G>T; p.A197S; 13:20188993-20188993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.321C>G; p.I107M; 13:20189261-20189261 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.357G>A; p.E119E; 13:20189225-20189225 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.264G>A; p.A88A; 13:20189318-20189318 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.28C>A; p.L10M; 13:20189554-20189554 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.237G>A; p.L79L; 13:20189345-20189345 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.344T>G; p.F115C; 13:20189238-20189238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.573C>T; p.F191F; 13:20189009-20189009 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.438C>G; p.F146L; 13:20189144-20189144 |
breast | carcinoma | Substitution - Missense |
c.475G>T; p.D159Y; 13:20189107-20189107 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.23C>T; p.T8M; 13:20189559-20189559 |
liver | carcinoma | Substitution - Missense |
c.511G>A; p.A171T; 13:20189071-20189071 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.486C>T; p.S162S; 13:20189096-20189096 |
skin | malignant_melanoma | Substitution - coding silent |
c.46C>A; p.H16N; 13:20189536-20189536 |
skin | malignant_melanoma | Substitution - Missense |
c.106C>T; p.L36F; 13:20189476-20189476 |
skin | malignant_melanoma | Substitution - Missense |
c.24G>A; p.T8T; 13:20189558-20189558 |
skin | malignant_melanoma | Substitution - coding silent |
c.24G>A; p.T8T; 13:20189558-20189558 |
skin | malignant_melanoma | Substitution - coding silent |