| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4552 |
Name | MTRR |
Synonymous | MSR|cblE;5-methyltetrahydrofolate-homocysteine methyltransferase reductase;MTRR;5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
Definition | [methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)|methionine synthase reductase|methionine synthase reductase, mitochondrial |
Position | 5p15.31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MTRR | ||
PCGP somatic mutation [Top] | ||
There is no record for MTRR | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1169G>T; p.G390V; |
lung | carcinoma; small_cell_carcinoma |
c.1075C>T; p.Q359*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1353G>T; p.L451F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1863A>T; p.R621S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1110G>T; p.L370F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.58T>C; p.F20L; |
large_intestine | carcinoma; adenocarcinoma |
c.1309G>A; p.A437T; |
oesophagus | carcinoma; adenocarcinoma |
c.2143G>A; p.E715K; |
oesophagus | carcinoma; adenocarcinoma |
c.102A>G; p.L34L; |
stomach | carcinoma; adenocarcinoma |
c.1552G>T; p.G518C; |
liver | carcinoma; hepatocellular_carcinoma |
c.870C>A; p.S290R; |
liver | carcinoma; hepatocellular_carcinoma |
c.1451G>T; p.S484I; |
large_intestine; colon | carcinoma |
c.532A>G; p.R178G; |
lung | carcinoma; adenocarcinoma |
c.579A>G; p.A193A; |
lung | carcinoma; adenocarcinoma |
c.469G>T; p.D157Y; |
lung | carcinoma; adenocarcinoma |
c.1724G>T; p.G575V; |
lung | carcinoma; adenocarcinoma |
c.1667C>G; p.S556C; |
lung | carcinoma; adenocarcinoma |
c.938C>G; p.T313R; |
lung | carcinoma; adenocarcinoma |
c.1512T>G; p.S504S; |
breast | carcinoma |
c.1524A>C; p.T508T; |
breast | carcinoma |
c.904C>G; p.Q302E; |
breast | carcinoma |
c.1850+5T>A; p.?; |
NS | NS |
c.1315G>A; p.D439N; |
prostate | carcinoma |
c.1511C>T; p.S504F; |
prostate | carcinoma |
c.630G>T; p.E210D; |
lung | carcinoma; small_cell_carcinoma |
c.1836G>T; p.R612S; 5:7950055-7950055 |
ovary | carcinoma; serous_carcinoma |
c.1110_1111GA>AT; p.K371*; 5:7938939-7938940 |
ovary | carcinoma; serous_carcinoma |
c.386C>A; p.T129N; |
lung | carcinoma; squamous_cell_carcinoma |
c.8C>G; p.A3G; |
lung | carcinoma; squamous_cell_carcinoma |
c.1409-2A>G; p.?; |
ovary | carcinoma; serous_carcinoma |
c.1924G>T; p.V642F; |
lung | carcinoma; squamous_cell_carcinoma |
c.84G>T; p.M28I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1540G>A; p.G514R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.506G>T; p.W169L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.759C>T; p.S253S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.670G>C; p.D224H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1732C>G; p.P578A; |
ovary | carcinoma; serous_carcinoma |
c.2163G>C; p.Q721H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1557G>T; p.W519C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.84G>T; p.M28I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1796G>T; p.G599V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.326C>T; p.P109L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.504G>A; p.P168P; |
breast | carcinoma |
c.2168T>C; p.I723T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1331T>C; p.V444A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1231delT; p.L412fs*157; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.576C>T; p.G192G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.571A>C; p.S191R; |
breast | carcinoma |
c.1664A>C; p.N555T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.709A>T; p.N237Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2049G>A; p.M683I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2132C>T; p.A711V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1238G>T; p.R413L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1655G>A; p.R552Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1315G>A; p.D439N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1689C>A; p.P563P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1115T>G; p.I372R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2151A>G; p.K717K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.669C>T; p.F223F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.142G>T; p.E48*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.715G>A; p.V239M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.211-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1908C>T; p.F636F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1991C>T; p.A664V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1720A>C; p.T574P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.84G>A; p.M28I; |
urinary_tract; bladder | carcinoma |
c.1834A>T; p.R612W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1978G>T; p.G660C; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1282C>G; p.L428V; |
breast | carcinoma |
c.1701C>T; p.I567I; |
urinary_tract; bladder | carcinoma |
c.770G>A; p.R257H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.454G>A; p.D152N; |
prostate | carcinoma |
c.583C>T; p.P195S; |
skin | malignant_melanoma |
c.364G>A; p.G122S; |
skin | malignant_melanoma |