| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2706 |
Name | GJB2 |
Synonymous | CX26|DFNA3|DFNA3A|DFNB1|DFNB1A|HID|KID|NSRD1|PPK;gap junction protein, beta 2, 26kDa;GJB2;gap junction protein, beta 2, 26kDa |
Definition | connexin 26|gap junction beta-2 protein |
Position | 13q11-q12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for GJB2 | ||
PCGP somatic mutation [Top] | ||
There is no record for GJB2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.94C>T; p.R32C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.268C>T; p.L90L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.475G>T; p.D159Y; |
lung | carcinoma; adenocarcinoma |
c.585G>A; p.M195I; |
skin; trunk | malignant_melanoma |
c.28C>A; p.L10M; |
lung | carcinoma; squamous_cell_carcinoma |
c.258G>T; p.T86T; |
lung | carcinoma; squamous_cell_carcinoma |
c.532G>A; p.V178M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.438C>G; p.F146L; |
breast | carcinoma |
c.357G>A; p.E119E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.264G>A; p.A88A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.31G>A; p.G11R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.450C>A; p.F150L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.249C>T; p.F83F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.344T>G; p.F115C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.671_672insA; p.P225fs*>3; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.325G>A; p.G109R; |
skin | malignant_melanoma |
c.94C>T; p.R32C; |
skin | malignant_melanoma |
c.46C>A; p.H16N; |
skin | malignant_melanoma |
c.518C>T; p.P173L; |
skin | malignant_melanoma |