Entrez Gene

Basic Information
Gene ID	6240
Name	RRM1
Synonymous	ribonucleotide reductase M1;RRM1;ribonucleotide reductase M1
Definition	ribonucleoside-diphosphate reductase large subunit\|ribonucleoside-diphosphate reductase subunit M1\|ribonucleotide reductase M1 polypeptide\|ribonucleotide reductase, R1 subunit
Position	11p15.5
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.217G>C; p.D73H; 11:4106154-4106154	urinary_tract; bladder	carcinoma	Substitution - Missense
c.423C>T; p.F141F; 11:4109679-4109679	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.675T>C; p.D225D; 11:4118344-4118344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1135C>T; p.R379C; 11:4123199-4123199	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1892C>T; p.S631L; 11:4132408-4132408	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1892C>T; p.S631L; 11:4132408-4132408	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1293A>C; p.E431D; 11:4123357-4123357	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.981T>C; p.D327D; 11:4121708-4121708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1719T>C; p.V573V; 11:4129100-4129100	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2074C>T; p.L692F; 11:4135154-4135154	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2232G>A; p.A744A; 11:4138236-4138236	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2232G>A; p.A744A; 11:4138236-4138236	thyroid	other; neoplasm	Substitution - coding silent
c.1547G>A; p.R516K; 11:4127111-4127111	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.251C>G; p.S84C; 11:4106188-4106188	breast	carcinoma	Substitution - Missense
c.501A>T; p.P167P; 11:4111913-4111913	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1417G>A; p.V473I; 11:4126780-4126780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2049G>T; p.V683V; 11:4135129-4135129	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.254A>G; p.N85S; 11:4106191-4106191	skin	malignant_melanoma	Substitution - Missense
c.522A>T; p.V174V; 11:4111934-4111934	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2138C>T; p.A713V; 11:4135218-4135218	pancreas	carcinoma	Substitution - Missense
c.1551C>T; p.Y517Y; 11:4127115-4127115	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2287G>A; p.V763I; 11:4138291-4138291	central_nervous_system; brain	glioma	Substitution - Missense
c.947A>C; p.K316T; 11:4121674-4121674	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.261C>T; p.H87H; 11:4106198-4106198	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1436A>C; p.K479T; 11:4126799-4126799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.886G>A; p.A296T; 11:4121613-4121613	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.253A>G; p.N85D; 11:4106190-4106190	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.938A>G; p.D313G; 11:4121665-4121665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541G>A; p.E181K; 11:4111953-4111953	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2269C>A; p.L757I; 11:4138273-4138273	thyroid	other; neoplasm	Substitution - Missense
c.2304A>C; p.E768D; 11:4138308-4138308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1772A>T; p.Y591F; 11:4132288-4132288	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.613C>T; p.L205F; 11:4112025-4112025	breast	carcinoma	Substitution - Missense
c.172A>G; p.T58A; 11:4106109-4106109	liver	carcinoma	Substitution - Missense
c.172A>G; p.T58A; 11:4106109-4106109	liver	carcinoma	Substitution - Missense
c.776G>A; p.G259D; 11:4118445-4118445	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.T58A; 11:4106109-4106109	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1238G>A; p.R413Q; 11:4123302-4123302	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1069C>G; p.P357A; 11:4122171-4122171	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2240C>T; p.P747L; 11:4138244-4138244	skin	malignant_melanoma	Substitution - Missense
c.390C>T; p.R130R; 11:4109646-4109646	skin	malignant_melanoma	Substitution - coding silent
c.390C>T; p.R130R; 11:4109646-4109646	skin	malignant_melanoma	Substitution - coding silent
c.273G>T; p.K91N; 11:4106210-4106210	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1205C>T; p.T402I; 11:4123269-4123269	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2149T>C; p.Y717H; 11:4135229-4135229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.478A>C; p.N160H; 11:4111631-4111631	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.488-4A>G; p.?; 11:4111896-4111896	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1831C>T; p.L611L; 11:4132347-4132347	skin	malignant_melanoma	Substitution - coding silent
c.1880G>A; p.R627H; 11:4132396-4132396	breast	carcinoma	Substitution - Missense
c.2218A>T; p.R740W; 11:4138222-4138222	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.214C>A; p.P72T; 11:4106151-4106151	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2152G>A; p.G718S; 11:4135232-4135232	skin	malignant_melanoma	Substitution - Missense
c.1207C>A; p.P403T; 11:4123271-4123271	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.499C>T; p.P167S; 11:4111911-4111911	skin; trunk	malignant_melanoma	Substitution - Missense
c.2158C>G; p.L720V; 11:4135238-4135238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.762T>C; p.C254C; 11:4118431-4118431	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242G>T; p.K414N; 11:4123306-4123306	prostate	adenoma	Substitution - Missense
c.142T>C; p.Y48H; 11:4106079-4106079	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1496G>A; p.R499H; 11:4127060-4127060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1496G>A; p.R499H; 11:4127060-4127060	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2223A>G; p.T741T; 11:4138227-4138227	thyroid	other; neoplasm	Substitution - coding silent
c.2223A>G; p.T741T; 11:4138227-4138227	thyroid	other; neoplasm	Substitution - coding silent
c.2223A>G; p.T741T; 11:4138227-4138227	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1973A>T; p.Q658L; 11:4133630-4133630	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1945G>T; p.G649C; 11:4133602-4133602	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2288T>C; p.V763A; 11:4138292-4138292	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.R139Q; 11:4109672-4109672	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.606G>A; p.S202S; 11:4112018-4112018	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1659C>T; p.Y553Y; 11:4127223-4127223	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.588G>A; p.R196R; 11:4112000-4112000	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1593C>G; p.I531M; 11:4127157-4127157	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1029G>A; p.E343E; 11:4121756-4121756	ovary	other; neoplasm	Substitution - coding silent
c.573_575delTCT; p.L193delL; 11:4111985-4111987	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.562G>C; p.E188Q; 11:4111974-4111974	breast	carcinoma	Substitution - Missense
c.141G>T; p.L47F; 11:4106078-4106078	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1084G>A; p.V362I; 11:4122186-4122186	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1388T>A; p.F463Y; 11:4126751-4126751	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]