| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2271 |
Name | FH |
Synonymous | HLRCC|LRCC|MCL|MCUL1;fumarate hydratase;FH;fumarate hydratase |
Definition | fumarase|fumarate hydratase, mitochondrial |
Position | 1q42.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for FH | ||
PCGP somatic mutation [Top] | ||
There is no record for FH | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1273G>T; p.D425Y; |
liver | carcinoma; hepatocellular_carcinoma |
c.1246G>A; p.V416M; 1:239730504-239730504 |
lung | carcinoma; adenocarcinoma |
c.402_403TC>AT; p.D134_H135>EY; 1:239742042-239742043 |
lung | carcinoma; adenocarcinoma |
c.535G>A; p.D179N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.881C>T; p.A294V; |
skin; abdomen | malignant_melanoma |
c.1391G>T; p.G464V; |
lung | carcinoma |
c.1391G>T; p.G464V; |
lung | carcinoma; adenocarcinoma |
c.227C>T; p.T76M; |
oesophagus | carcinoma; adenocarcinoma |
c.1302C>T; p.C434C; |
oesophagus | carcinoma; adenocarcinoma |
c.1077T>C; p.P359P; |
liver | carcinoma |
c.511A>T; p.S171C; |
lung | carcinoma; adenocarcinoma |
c.1379A>G; p.N460S; |
lung | carcinoma; adenocarcinoma |
c.1280C>T; p.S427L; |
lung | carcinoma; adenocarcinoma |
c.1371A>T; p.T457T; 1:239730379-239730379 |
lung | carcinoma; non_small_cell_carcinoma |
c.267+10A>T; p.?; |
liver | carcinoma |
c.1246G>C; p.V416L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1325C>G; p.T442R; 1:239730425-239730425 |
ovary | carcinoma; serous_carcinoma |
c.885A>G; p.A295A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1409A>G; p.K470R; |
lung | carcinoma; adenocarcinoma |
c.892G>T; p.A298S; |
lung | carcinoma; adenocarcinoma |
c.1132G>T; p.E378*; |
lung | carcinoma; adenocarcinoma |
c.372A>T; p.A124A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1165G>T; p.G389W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1165G>T; p.G389W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1052C>A; p.S351*; |
lung | carcinoma; squamous_cell_carcinoma |
c.359T>A; p.I120K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.207C>T; p.G69G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.953A>G; p.H318R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.307G>A; p.A103T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1247T>C; p.V416A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.468C>T; p.V156V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.807C>A; p.I269I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1155C>T; p.A385A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1196G>T; p.S399I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1027C>T; p.R343*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.501T>C; p.G167G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.309C>T; p.A103A; |
breast | carcinoma |
c.1303G>A; p.V435M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.535G>A; p.D179N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.958G>A; p.A320T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.260G>A; p.R87H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.289G>A; p.G97S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.942T>C; p.A314A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.379-1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1247T>C; p.V416A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1305G>T; p.V435V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1369A>G; p.T457A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1369A>G; p.T457A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1370C>A; p.T457K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1459A>G; p.I487V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1494C>T; p.D498D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.704A>G; p.H235R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1326A>G; p.T442T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.253A>G; p.T85A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1324A>T; p.T442S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1369A>G; p.T457A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1371A>G; p.T457T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.148T>A; p.F50I; |
urinary_tract; bladder | carcinoma |
c.1357C>G; p.L453V; |
urinary_tract; bladder | carcinoma |
c.884C>T; p.A295V; |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.844G>A; p.G282S; |
skin | malignant_melanoma |
c.1334T>G; p.I445S; |
skin | malignant_melanoma |
c.1273G>C; p.D425H; |
skin | malignant_melanoma |
c.151C>T; p.R51W; |
skin; face | carcinoma; squamous_cell_carcinoma |