| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4210 |
Name | MEFV |
Synonymous | FMF|MEF|TRIM20;Mediterranean fever;MEFV;Mediterranean fever |
Definition | marenostrin|pyrin |
Position | 16p13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MEFV | ||
PCGP somatic mutation [Top] | ||
There is no record for MEFV | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1080A>T; p.E360D; |
liver | carcinoma; hepatocellular_carcinoma |
c.1513G>A; p.D505N; |
skin; upper_leg | malignant_melanoma |
c.919C>G; p.P307A; |
lung | carcinoma; small_cell_carcinoma |
c.2244C>A; p.F748L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.715C>T; p.R239*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.688G>T; p.E230*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1389G>A; p.Q463Q; 16:3237215-3237215 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.610C>T; p.R204C; 16:3244459-3244459 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.672G>A; p.K224K; 16:3244397-3244397 |
skin | malignant_melanoma |
c.74A>C; p.K25T; |
oesophagus | carcinoma; adenocarcinoma |
c.1130G>A; p.R377H; |
oesophagus | carcinoma; adenocarcinoma |
c.585G>T; p.E195D; |
oesophagus | carcinoma; adenocarcinoma |
c.373G>A; p.E125K; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1442T>C; p.V481A; |
large_intestine; colon | carcinoma |
c.2151T>A; p.R717R; |
lung | carcinoma; adenocarcinoma |
c.2054A>T; p.E685V; |
lung | carcinoma; adenocarcinoma |
c.1215A>T; p.Q405H; |
lung | carcinoma; adenocarcinoma |
c.319T>A; p.S107T; |
lung | carcinoma; adenocarcinoma |
c.96T>A; p.S32R; |
lung | carcinoma; adenocarcinoma |
c.1910A>T; p.D637V; |
lung | carcinoma; adenocarcinoma |
c.1644C>A; p.T548T; |
lung | carcinoma; adenocarcinoma |
c.285C>A; p.S95S; |
lung | carcinoma; adenocarcinoma |
c.1309G>A; p.G437R; |
skin; trunk | malignant_melanoma |
c.1648C>T; p.P550S; |
NS | malignant_melanoma |
c.2167G>A; p.D723N; |
NS | malignant_melanoma |
c.449G>A; p.G150E; |
skin; extremity | malignant_melanoma |
c.1542_1543GG>AA; p.E515K; |
skin; extremity | malignant_melanoma |
c.1986G>A; p.K662K; |
large_intestine; caecum | adenoma |
c.189A>G; p.E63E; |
autonomic_ganglia | neuroblastoma |
c.1978G>T; p.G660*; 16:3233510-3233510 |
lung | carcinoma; non_small_cell_carcinoma |
c.985C>G; p.R329G; |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.1610G>A; p.R537K; |
breast | carcinoma |
c.1366G>A; p.E456K; |
breast | carcinoma |
c.1867G>C; p.G623R; |
liver | carcinoma |
c.1424_1427delAGCA; p.Q476fs*36; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1736G>A; p.R579H; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1043G>A; p.R348H; 16:3239649-3239649 |
ovary | carcinoma; serous_carcinoma |
c.903G>T; p.S301S; |
lung | carcinoma; adenocarcinoma |
c.402G>A; p.P134P; |
lung | carcinoma; adenocarcinoma |
c.1426C>A; p.Q476K; |
ovary | carcinoma; serous_carcinoma |
c.1645A>G; p.T549A; |
ovary | carcinoma; serous_carcinoma |
c.485G>C; p.R162T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2216A>C; p.H739P; |
ovary | carcinoma; serous_carcinoma |
c.935G>T; p.S312I; |
ovary | carcinoma; serous_carcinoma |
c.565G>T; p.G189C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1013T>G; p.V338G; |
lung | carcinoma; adenocarcinoma |
c.1632T>C; p.P544P; |
lung | carcinoma; adenocarcinoma |
c.706G>A; p.G236R; |
lung | carcinoma; adenocarcinoma |
c.1098C>A; p.S366R; |
lung | carcinoma; adenocarcinoma |
c.243G>T; p.L81L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.737C>A; p.T246N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2018C>A; p.S673Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.858G>T; p.G286G; |
lung | carcinoma; squamous_cell_carcinoma |
c.2246C>G; p.S749C; |
lung | carcinoma; squamous_cell_carcinoma |
c.583G>C; p.E195Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1724C>G; p.S575*; |
lung | carcinoma; adenocarcinoma |
c.816C>A; p.D272E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.234C>A; p.N78K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1897C>A; p.P633T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.789A>T; p.L263L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.366C>T; p.D122D; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.223C>A; p.R75R; |
breast | carcinoma |
c.1788T>C; p.H596H; |
breast | carcinoma |
c.2103G>A; p.A701A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2150G>A; p.R717H; |
breast | carcinoma |
c.2156G>T; p.G719V; |
breast | carcinoma |
c.682C>G; p.P228A; |
breast | carcinoma |
c.676delT; p.C226fs*36; |
breast | carcinoma |
c.2110G>A; p.V704I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.807G>A; p.A269A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.412G>A; p.G138R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1437C>A; p.F479L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1953C>T; p.G651G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1612G>A; p.A538T; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1229G>A; p.R410H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.2217C>T; p.H739H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1504G>A; p.V502I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1060delC; p.R354fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1763C>T; p.P588L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1527C>T; p.L509L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2163C>T; p.F721F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1130G>A; p.R377H; |
breast | carcinoma |
c.806C>T; p.A269V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.780C>A; p.L260L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1099C>A; p.L367I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.818C>T; p.S273L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1043G>A; p.R348H; 16:3239649-3239649 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.973G>T; p.G325C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.401C>T; p.P134L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1776C>T; p.G592G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1927C>A; p.L643M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.816C>T; p.D272D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.902C>T; p.S301L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.688G>A; p.E230K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.306T>C; p.D102D; |
breast | carcinoma |
c.2103G>A; p.A701A; |
breast | carcinoma |
c.978C>A; p.T326T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1322G>T; p.R441L; |
breast | carcinoma |
c.1032C>A; p.A344A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.495C>A; p.A165A; |
prostate | carcinoma; adenocarcinoma |
c.1387C>T; p.Q463*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1995G>A; p.W665*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2110G>A; p.V704I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1978G>A; p.G660R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1894G>T; p.G632C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1518C>T; p.I506I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2180G>C; p.G727A; |
urinary_tract; bladder | carcinoma |
c.2103G>A; p.A701A; |
urinary_tract; bladder | carcinoma |
c.202C>T; p.Q68*; |
prostate | carcinoma; adenocarcinoma |
c.2110G>A; p.V704I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1980A>G; p.G660G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1222C>T; p.R408W; |
prostate | carcinoma; adenocarcinoma |
c.1741G>A; p.E581K; |
urinary_tract; bladder | carcinoma |
c.316G>A; p.A106T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2150G>A; p.R717H; |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.1510C>T; p.Q504*; |
skin | malignant_melanoma |
c.955G>A; p.E319K; |
skin | malignant_melanoma |
c.1003C>T; p.P335S; |
skin | malignant_melanoma |
c.2086G>A; p.E696K; |
skin; scalp | malignant_melanoma |
c.833_834GG>AA; p.R278Q; |
skin | malignant_melanoma |
c.190G>T; p.E64*; |
skin | malignant_melanoma |
c.1994G>A; p.W665*; |
skin | malignant_melanoma |
c.1902A>T; p.Q634H; |
skin; mucosal | malignant_melanoma |
c.1575G>A; p.W525*; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1876T>A; p.W626R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |