| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 83605 |
Name | CCM2 |
Synonymous | C7orf22|OSM;cerebral cavernous malformation 2;CCM2;cerebral cavernous malformation 2 |
Definition | cerebral cavernous malformations 2 protein|malcavernin |
Position | 7p13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CCM2 | ||
PCGP somatic mutation [Top] | ||
There is no record for CCM2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.34A>C; p.N12H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.438_441delGGAC; p.D147fs*29; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.284C>T; p.T95M; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.605C>T; p.S202F; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1219G>A; p.G407S; |
lung | carcinoma; small_cell_carcinoma |
c.1213A>T; p.S405C; |
lung | carcinoma; non_small_cell_carcinoma |
c.1360G>T; p.E454*; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1040G>A; p.R347H; |
ovary | carcinoma |
c.808G>A; p.D270N; |
ovary | carcinoma; serous_carcinoma |
c.1120C>A; p.L374M; |
pancreas | carcinoma; ductal_carcinoma |
c.1120C>A; p.L374M; |
NS | NS |
c.1154A>G; p.H385R; |
lung | carcinoma; small_cell_carcinoma |
c.619G>A; p.A207T; |
lung | carcinoma; adenocarcinoma |
c.1180G>T; p.G394C; |
lung | carcinoma; squamous_cell_carcinoma |
c.879A>G; p.E293E; |
lung | carcinoma; squamous_cell_carcinoma |
c.995C>T; p.S332L; |
lung | carcinoma; squamous_cell_carcinoma |
c.853G>T; p.E285*; |
lung | carcinoma; squamous_cell_carcinoma |
c.408G>C; p.L136L; |
lung | carcinoma; adenocarcinoma |
c.1041C>A; p.R347R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.978G>A; p.T326T; |
breast | carcinoma |
c.487G>A; p.V163I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.414G>A; p.A138A; |
breast | carcinoma |
c.284C>T; p.T95M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.217C>T; p.R73C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.697delC; p.L233fs*2; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.983G>A; p.R328H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1353C>T; p.S451S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1090G>A; p.G364R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.217C>T; p.R73C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.741C>T; p.I247I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.382C>T; p.Q128*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.406C>T; p.L136L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.747T>C; p.F249F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.680C>T; p.A227V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1185G>A; p.V395V; |
urinary_tract; bladder | carcinoma |
c.1099C>T; p.R367C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.606C>T; p.S202S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.536-1G>A; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.983G>A; p.R328H; |
breast | carcinoma |
c.549G>T; p.G183G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.108G>A; p.S36S; |
prostate | carcinoma |
c.1219G>T; p.G407C; |
skin; ear | carcinoma; squamous_cell_carcinoma |