| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 64127 |
Name | NOD2 |
Synonymous | ACUG|BLAU|CARD15|CD|CLR16.3|IBD1|NLRC2|NOD2B|PSORAS1;nucleotide-binding oligomerization domain containing 2;NOD2;nucleotide-binding oligomerization domain containing 2 |
Definition | NLR family, CARD domain containing 2|NOD-like receptor C2|caspase recruitment domain family, member 15|caspase recruitment domain protein 15|caspase recruitment domain-containing protein 15|inflammatory bowel disease protein 1|nucleotide-binding oligomeri |
Position | 16q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NOD2 | ||
PCGP somatic mutation [Top] | ||
There is no record for NOD2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.744G>A; p.L248L; |
skin; arm | malignant_melanoma |
c.1577delC; p.P528fs*235; |
NS | malignant_melanoma |
c.2715-7delt; p.?; |
NS | malignant_melanoma |
c.613G>T; p.E205*; |
lung | carcinoma; small_cell_carcinoma |
c.2859G>T; p.K953N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2635G>A; p.G879R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2180C>T; p.P727L; |
oesophagus | carcinoma; adenocarcinoma |
c.1733A>T; p.D578V; |
oesophagus | carcinoma; adenocarcinoma |
c.476G>A; p.R159Q; |
oesophagus | carcinoma; adenocarcinoma |
c.931C>T; p.R311W; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.332A>G; p.Q111R; |
lung | carcinoma; small_cell_carcinoma |
c.1508A>G; p.E503G; |
liver | carcinoma |
c.2096C>T; p.A699V; |
liver | carcinoma; hepatocellular_carcinoma |
c.2031C>T; p.F677F; |
skin; trunk | malignant_melanoma; nodular |
c.875C>T; p.A292V; |
lung | carcinoma; adenocarcinoma |
c.2192A>G; p.K731R; |
lung | carcinoma; adenocarcinoma |
c.111G>T; p.Q37H; |
lung | carcinoma; adenocarcinoma |
c.1509delG; p.S506fs*11; |
lung | carcinoma; adenocarcinoma |
c.2758G>T; p.A920S; |
lung | carcinoma; adenocarcinoma |
c.470G>T; p.W157L; |
lung | carcinoma; adenocarcinoma |
c.2776C>T; p.H926Y; |
skin; trunk | malignant_melanoma |
c.2019C>A; p.I673I; |
lung | carcinoma; small_cell_carcinoma |
c.3019_3020insC; p.L1007fs*2; |
skin; axilla | malignant_melanoma |
c.1711C>T; p.Q571*; 16:49303034-49303034 |
ovary | carcinoma; serous_carcinoma |
c.478G>A; p.G160S; |
lung | carcinoma; adenocarcinoma |
c.830G>T; p.G277V; |
lung | carcinoma; adenocarcinoma |
c.224A>C; p.H75P; |
lung | carcinoma; adenocarcinoma |
c.1556A>C; p.Q519P; |
lung | carcinoma; squamous_cell_carcinoma |
c.852C>T; p.T284T; |
lung | carcinoma; squamous_cell_carcinoma |
c.869A>T; p.D290V; |
lung | carcinoma; squamous_cell_carcinoma |
c.581G>C; p.G194A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1956G>A; p.S652S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2902C>T; p.Q968*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2901C>A; p.L967L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1193C>T; p.T398I; 16:49302516-49302516 |
ovary | carcinoma; serous_carcinoma |
c.233G>C; p.G78A; 16:49291059-49291059 |
ovary | carcinoma; serous_carcinoma |
c.2926G>A; p.A976T; |
ovary | carcinoma; serous_carcinoma |
c.1489C>A; p.Q497K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1119T>A; p.R373R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2771G>T; p.G924V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2901C>G; p.L967L; |
lung | carcinoma; squamous_cell_carcinoma |
c.124G>A; p.V42I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2369G>T; p.R790L; |
lung | carcinoma; squamous_cell_carcinoma |
c.90G>T; p.S30S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2726A>T; p.N909I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1627C>T; p.R543C; |
lung | carcinoma; squamous_cell_carcinoma |
c.538A>T; p.R180W; |
lung | carcinoma; squamous_cell_carcinoma |
c.433C>A; p.L145I; |
ovary | carcinoma; serous_carcinoma |
c.1792C>A; p.P598T; |
lung | carcinoma; adenocarcinoma |
c.912C>A; p.G304G; |
lung | carcinoma; adenocarcinoma |
c.1358A>G; p.E453G; |
lung | carcinoma; squamous_cell_carcinoma |
c.857G>A; p.G286D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1923C>A; p.A641A; |
lung | carcinoma; squamous_cell_carcinoma |
c.2438G>C; p.C813S; |
lung | carcinoma; adenocarcinoma |
c.836A>T; p.E279V; |
lung | carcinoma; adenocarcinoma |
c.1642C>T; p.L548L; |
lung | carcinoma; adenocarcinoma |
c.921G>T; p.T307T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1158C>T; p.F386F; |
breast | carcinoma |
c.1367T>C; p.L456P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1577delC; p.P528fs*235; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1791G>A; p.A597A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1121T>C; p.V374A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2196C>T; p.S732S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1195G>A; p.D399N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2267G>A; p.R756Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1509delG; p.S506fs*11; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1660G>A; p.A554T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.976C>A; p.L326I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2455G>A; p.A819T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2468G>A; p.R823H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.530C>G; p.P177R; |
breast | carcinoma |
c.397G>T; p.D133Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1049T>G; p.F350C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3056G>A; p.R1019Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1871C>T; p.A624V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1118G>A; p.R373H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.922C>T; p.L308F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.500G>A; p.C167Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.903G>A; p.A301A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2876A>C; p.E959A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1974C>T; p.S658S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.135G>A; p.L45L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.976C>A; p.L326I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.660G>A; p.K220K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1321G>A; p.E441K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.517C>T; p.P173S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.704G>A; p.R235H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1295C>T; p.A432V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.442C>T; p.H148Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1735G>T; p.D579Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.735G>A; p.T245T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.191A>G; p.E64G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1508_1509insG; p.S506fs*73; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1316G>A; p.R439H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1577delC; p.P528fs*235; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2630+2T>C; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1509delG; p.S506fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1711C>T; p.Q571*; 16:49303034-49303034 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1577delC; p.P528fs*235; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1146C>T; p.D382D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1501C>T; p.L501L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2798+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.232G>A; p.G78S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2074G>A; p.E692K; |
urinary_tract; bladder | carcinoma |
c.1858G>A; p.D620N; |
cervix | carcinoma; squamous_cell_carcinoma |
c.534C>G; p.S178S; |
breast | carcinoma |
c.2368C>T; p.R790W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2546C>T; p.A849V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1323G>A; p.E441E; |
urinary_tract; bladder | carcinoma |
c.1577delC; p.P528fs*235; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1712A>T; p.Q571L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1259G>A; p.R420H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.412C>T; p.R138W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1577delC; p.P528fs*235; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.581G>A; p.G194E; |
skin | malignant_melanoma |
c.1193C>T; p.T398I; 16:49302516-49302516 |
skin | malignant_melanoma |
c.805C>T; p.P269S; |
skin; upper_leg | malignant_melanoma |
c.1720C>A; p.Q574K; |
skin; mucosal | malignant_melanoma |