| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4595 |
Name | MUTYH |
Synonymous | CYP2C|MYH;mutY homolog (E. coli);MUTYH;mutY homolog (E. coli) |
Definition | A/G-specific adenine DNA glycosylase |
Position | 1p34.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MUTYH | ||
PCGP somatic mutation [Top] | ||
There is no record for MUTYH | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.598C>T; p.R200C; |
large_intestine | carcinoma; adenocarcinoma |
c.1028C>T; p.S343L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.827A>C; p.N276T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1572A>C; p.Q524H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.16T>G; p.S6A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.317G>T; p.R106L; |
lung | carcinoma; small_cell_carcinoma |
c.595C>A; p.P199T; |
urinary_tract; bladder | carcinoma |
c.1586_1587insT; p.F530fs*8; |
oesophagus | carcinoma; adenocarcinoma |
c.553G>A; p.E185K; |
oesophagus | carcinoma; adenocarcinoma |
c.131G>A; p.S44N; |
lung | carcinoma; small_cell_carcinoma |
c.599G>A; p.R200H; |
lung | carcinoma; small_cell_carcinoma |
c.676G>T; p.G226C; |
lung | carcinoma; adenocarcinoma |
c.1108G>T; p.A370S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1411C>T; p.R471C; |
NS | NS |
c.811C>T; p.R271W; |
bone | chondrosarcoma |
c.1301G>A; p.R434Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.851C>A; p.A284D; |
lung | carcinoma; adenocarcinoma |
c.725G>A; p.R242H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1416G>T; p.W472C; |
lung | carcinoma; squamous_cell_carcinoma |
c.858G>T; p.V286V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1267C>T; p.R423C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.380-1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.442G>A; p.G148R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.125A>T; p.N42I; |
breast | carcinoma |
c.1527G>A; p.Q509Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.69A>G; p.G23G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.810C>A; p.A270A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.280C>T; p.R94*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.536G>A; p.R179H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.670G>A; p.A224T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1460T>C; p.M487T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1240C>T; p.R414C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.303C>T; p.Y101Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.158-3C>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.723C>T; p.C241C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.921G>C; p.Q307H; |
breast | carcinoma |
c.1343T>C; p.L448P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.641G>A; p.R214H; |
stomach | adenocarcinoma |