| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4292 |
Name | MLH1 |
Synonymous | COCA2|FCC2|HNPCC|HNPCC2|hMLH1;mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli);MLH1;mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
Definition | DNA mismatch repair protein Mlh1|mutL protein homolog 1 |
Position | 3p21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MLH1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
MLH1_A580T; chr3; 37089016 |
SUB; MISSENSE; G; G/A; SOMATIC | RHB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2020G>T; p.E674*; |
large_intestine | carcinoma; adenocarcinoma |
c.265G>A; p.E89K; |
breast | carcinoma; HER-positive_carcinoma |
c.514G>A; p.E172K; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1483A>G; p.T495A; |
breast | carcinoma; HER-positive_carcinoma |
c.1897_1904delGAAGGGAA; p.?; 3:37065009-37065019 |
large_intestine | carcinoma; adenocarcinoma |
c.2033_2046del14; p.K678fs*11; 3:37065442-37065455 |
large_intestine | carcinoma; adenocarcinoma |
c.588_589insA; p.Q197fs*7; |
large_intestine | carcinoma; adenocarcinoma |
c.1896+1G>A; p.?; 3:37064179-37064179 |
large_intestine | carcinoma; adenocarcinoma |
c.2042C>T; p.A681V; 3:37065451-37065451 |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.R325Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.?; p.G54E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1497delG; p.I500fs*8; 3:37045366-37045366 |
large_intestine | carcinoma; adenocarcinoma |
c.145_148delGTGA; p.V49fs*7; 3:37013142-37013145 |
endometrium | carcinoma |
c.?_?ins9; p.?; |
endometrium | carcinoma |
c.1788C>T; p.G596G; 3:37064070-37064070 |
endometrium | carcinoma |
c.1406C>T; p.P469L; 3:37042499-37042499 |
NS | carcinoma |
c.1569G>T; p.E523D; 3:37056691-37056691 |
stomach | carcinoma; adenocarcinoma |
c.1732-1G>A; p.?; 3:37064013-37064013 |
skin; leg | malignant_melanoma; nodular |
c.1564C>T; p.R522W; 3:37056686-37056686 |
large_intestine | carcinoma; adenocarcinoma |
c.790+10A>G; p.?; 3:37031049-37031049 |
large_intestine | carcinoma; adenocarcinoma |
c.1853A>C; p.K618T; 3:37064135-37064135 |
large_intestine | carcinoma; adenocarcinoma |
c.1959G>T; p.L653L; 3:37065074-37065074 |
large_intestine | carcinoma; adenocarcinoma |
c.769delA; p.I257fs*11; 3:37031018-37031018 |
large_intestine | carcinoma; adenocarcinoma |
c.472A>C; p.N158H; 3:37025327-37025327 |
large_intestine | carcinoma; adenocarcinoma |
c.1988_1989delAG; p.E663fs*11; 3:37065103-37065104 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.738_750del13; p.S247fs*3; 3:37030987-37030999 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1852_1854delAAG; p.K618del; 3:37064134-37064136 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1731G>A; p.S556fs*14; 3:37058826-37058826 |
large_intestine; right | carcinoma; adenocarcinoma |
c.1759A>G; p.M587V; 3:37064041-37064041 |
stomach | carcinoma; adenocarcinoma |
c.30G>C; p.R10R; |
prostate | carcinoma |
c.872delT; p.F291fs*6; 3:37034082-37034082 |
large_intestine | carcinoma; adenocarcinoma |
c.588+5G>T; p.?; 3:37028362-37028362 |
large_intestine | carcinoma; adenocarcinoma |
c.2171T>G; p.L724W; 3:37067048-37067048 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.324C>G; p.S108R; 3:37020913-37020913 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1668_1731del64; p.?; 3:37058763-37058826 |
breast | carcinoma; ductal_carcinoma |
c.2035G>T; p.E679*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.?; p.V384D; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.?; p.V384D; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.?; p.V384D; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.?; p.V384D; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.?; p.V384D; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.?; p.V384D; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.?; p.V384D; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.2154_2155insT; p.I719fs*4; 3:37067031-37067032 |
large_intestine | carcinoma; adenocarcinoma |
c.872_873insT; p.L292fs*15; 3:37034082-37034083 |
large_intestine | carcinoma; adenocarcinoma |
c.5C>A; p.S2*; 3:37010047-37010047 |
large_intestine | carcinoma; adenocarcinoma |
c.676C>T; p.R226*; 3:37028593-37028593 |
large_intestine | carcinoma; adenocarcinoma |
c.588_588delA; p.K196fs*6; 3:37028357-37028357 |
large_intestine | carcinoma; adenocarcinoma |
c.2141G>A; p.W714*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1889T>G; p.I630S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.214G>T; p.D72Y; |
lung | carcinoma; small_cell_carcinoma |
c.207+1G>A; p.?; 3:37013205-37013205 |
large_intestine | carcinoma; adenocarcinoma |
c.1731G>A; p.S556fs*14; 3:37058826-37058826 |
large_intestine | carcinoma; adenocarcinoma |
c.206G>A; p.R69K; 3:37013203-37013203 |
large_intestine | carcinoma; adenocarcinoma |
c.2271A>T; p.*757?; 3:37067148-37067148 |
large_intestine | carcinoma; adenocarcinoma |
c.129delA; p.K43fs*7; 3:37013126-37013126 |
large_intestine | carcinoma; adenocarcinoma |
c.1369G>C; p.E457Q; |
urinary_tract; bladder | carcinoma |
c.161G>A; p.G54E; 3:37013158-37013158 |
large_intestine | carcinoma; adenocarcinoma |
c.974G>A; p.R325Q; 3:37036894-37036894 |
large_intestine | carcinoma; adenocarcinoma |
c.546-32T>C; p.?; 3:37028283-37028283 |
large_intestine | carcinoma; adenocarcinoma |
c.731G>T; p.G244V; 3:37030980-37030980 |
large_intestine | carcinoma; adenocarcinoma |
c.790+1G>A; p.?; 3:37031040-37031040 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.790+1G>A; p.?; 3:37031040-37031040 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.298C>T; p.R100*; 3:37017540-37017540 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1489_1490insC; p.R497fs*6; 3:37045358-37045359 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.790+1G>A; p.?; 3:37031040-37031040 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.117-2A>T; p.?; 3:37013112-37013112 |
prostate | carcinoma; adenocarcinoma |
c.1923T>C; p.L641L; |
liver | carcinoma |
c.1941_1942insC; p.L650fs*14; |
liver | carcinoma |
c.755C>A; p.S252*; 3:37031004-37031004 |
large_intestine; colon | carcinoma |
c.700G>T; p.E234*; |
liver | carcinoma |
c.1513delA; p.S505fs*3; 3:37045382-37045382 |
ovary | carcinoma |
c.1070G>C; p.G357A; |
lung | carcinoma; adenocarcinoma |
c.1590delC; p.F530fs*5; |
lung | carcinoma; adenocarcinoma |
c.354A>C; p.K118N; |
lung | carcinoma; adenocarcinoma |
c.1523G>A; p.S508N; |
lung | carcinoma; adenocarcinoma |
c.1142A>G; p.H381R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.471C>A; p.Y157*; |
autonomic_ganglia | neuroblastoma |
c.1732-1G>A; p.?; 3:37064013-37064013 |
skin; leg | malignant_melanoma; nodular |
c.697T>C; p.C233R; 3:37030946-37030946 |
pancreas | carcinoma; ductal_carcinoma |
c.1151T>A; p.V384D; 3:37042244-37042244 |
pancreas | carcinoma; ductal_carcinoma |
c.1744C>G; p.L582V; 3:37064026-37064026 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1559-9insG; p.?; 3:37056672-37056673 |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.E13*; |
lung | carcinoma; non_small_cell_carcinoma |
c.5C>T; p.S2L; 3:37010047-37010047 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1567G>A; p.E523K; 3:37056689-37056689 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.697T>C; p.C233R; 3:37030946-37030946 |
pancreas | carcinoma; ductal_carcinoma |
c.1151T>A; p.V384D; 3:37042244-37042244 |
pancreas | carcinoma; ductal_carcinoma |
c.1151T>A; p.V384D; 3:37042244-37042244 |
pancreas; ampulla_of_Vater | carcinoma; ductal_carcinoma |
c.1628A>G; p.H543R; 3:37056750-37056750 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.301G>A; p.G101S; 3:37017543-37017543 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1228G>A; p.A410T; 3:37042321-37042321 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1763T>G; p.L588R; |
lung | carcinoma; adenocarcinoma |
c.298C>T; p.R100*; 3:37017540-37017540 |
ovary | carcinoma; serous_carcinoma |
c.559A>T; p.N187Y; 3:37028328-37028328 |
ovary | carcinoma; serous_carcinoma |
c.1035C>G; p.T345T; |
ovary | carcinoma; serous_carcinoma |
c.937G>T; p.E313*; |
lung | carcinoma; squamous_cell_carcinoma |
c.903G>A; p.Q301Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1460G>T; p.R487L; |
lung | carcinoma; squamous_cell_carcinoma |
c.882C>T; p.L294L; |
lung | carcinoma; adenocarcinoma |
c.292G>T; p.G98C; |
lung | carcinoma; adenocarcinoma |
c.142C>G; p.Q48E; |
lung | carcinoma; adenocarcinoma |
c.1650C>G; p.L550L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.580G>A; p.V194I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.628G>A; p.A210T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.755C>A; p.S252*; 3:37031004-37031004 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1845_1847delGAA; p.K618delK; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1564C>T; p.R522W; 3:37056686-37056686 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.46G>A; p.V16M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.561T>C; p.N187N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.199G>A; p.G67R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.302G>A; p.G101D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.583delA; p.K196fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.755C>T; p.S252L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.677G>A; p.R226Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.677G>A; p.R226Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1229C>G; p.A410G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.26G>A; p.R9Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1768T>A; p.L590I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.649C>T; p.R217C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.121G>T; p.D41Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2108A>C; p.E703A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.582_583insA; p.Q197fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.303T>C; p.G101G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2170T>C; p.L724L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2170T>C; p.L724L; |
large_intestine; rectum | NS |
c.1695T>G; p.I565M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1972C>A; p.L658I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.780C>T; p.L260L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1459C>T; p.R487*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.11T>C; p.V4A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1983C>A; p.A661A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2064G>A; p.K688K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1152T>C; p.V384V; |
large_intestine | carcinoma; adenocarcinoma |
c.300A>G; p.R100R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1852A>G; p.K618E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2041G>A; p.A681T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1896+1G>A; p.?; 3:37064179-37064179 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2271A>G; p.*757*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.472A>T; p.N158Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.677G>A; p.R226Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.322A>G; p.S108G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.472A>G; p.N158D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.473A>G; p.N158S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1153C>T; p.R385C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.729T>C; p.N243N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.199G>T; p.G67W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2029_2033delAGTAA; p.S677fs*15; |
endometrium | carcinoma; endometrioid_carcinoma |
c.304G>T; p.E102*; |
breast | carcinoma |
c.2100G>A; p.Q700Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.723A>C; p.K241N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.37G>A; p.E13K; |
urinary_tract; bladder | carcinoma |
c.1891G>C; p.D631H; |
breast | carcinoma |
c.975G>A; p.R325R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1154G>A; p.R385H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.207G>A; p.R69R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2172G>A; p.L724L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.790+1G>A; p.?; 3:37031040-37031040 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.162A>G; p.G54G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.583delA; p.K196fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.559A>G; p.N187D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1731G>A; p.S556fs*14; 3:37058826-37058826 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.856delA; p.N287fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.677G>A; p.R226Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.473A>G; p.N158S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1564C>T; p.R522W; 3:37056686-37056686 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.323G>A; p.S108N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.207G>A; p.R69R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.677+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1853A>G; p.K618R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1568A>G; p.E523G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.391T>C; p.S131P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1484delC; p.R497fs*11; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1151T>C; p.V384A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.697T>C; p.C233R; 3:37030946-37030946 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.793delC; p.R265fs*3; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.162A>G; p.G54G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.303T>C; p.G101G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1628A>G; p.H543R; 3:37056750-37056750 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2232T>C; p.A744A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.198C>A; p.T66T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1501A>G; p.I501V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.679G>T; p.E227*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.514G>A; p.E172K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.100G>T; p.E34*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1759A>G; p.M587V; 3:37064041-37064041 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4T>C; p.S2P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.560A>G; p.N187S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1565G>T; p.R522L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1731+2T>C; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1959G>A; p.L653L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1564C>T; p.R522W; 3:37056686-37056686 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1853A>G; p.K618R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2126C>A; p.P709Q; |
breast | carcinoma |
c.1759A>G; p.M587V; 3:37064041-37064041 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.561T>C; p.N187N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.162A>G; p.G54G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.677G>A; p.R226Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.676C>A; p.R226R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.731G>A; p.G244D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1759A>G; p.M587V; 3:37064041-37064041 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.472A>G; p.N158D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1845_1847delGAA; p.K618delK; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.473A>G; p.N158S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.755C>G; p.S252*; |
urinary_tract; bladder | carcinoma |
c.974G>A; p.R325Q; 3:37036894-37036894 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.755C>A; p.S252*; 3:37031004-37031004 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.474C>T; p.N158N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.117-2A>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.677G>A; p.R226Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1731G>A; p.S556fs*14; 3:37058826-37058826 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1731G>A; p.S556fs*14; 3:37058826-37058826 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1731G>A; p.S556fs*14; 3:37058826-37058826 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1151T>C; p.V384A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1853A>G; p.K618R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.655A>G; p.I219V; |
prostate | carcinoma; adenocarcinoma |
c.2260G>C; p.E754Q; |
urinary_tract; bladder | carcinoma |
c.1099A>G; p.T367A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.325C>G; p.H109D; |
prostate | carcinoma |
c.1975C>T; p.R659*; |
skin | malignant_melanoma |
c.1975C>T; p.R659*; |
skin | malignant_melanoma |
c.812C>T; p.S271F; |
skin | malignant_melanoma |