| Gene ID | 57016 |
| Symbol | AKR1B10 |
| Synonymous | AKR1B11|AKR1B12|ALDRLn|ARL-1|ARL1|HIS|HSI |
| Full name | aldo-keto reductase family 1, member B10 (aldose reductase) |
| Gene description | ARP|SI reductase|aldo-keto reductase family 1 member B10|aldo-keto reductase family 1, member B11 (aldose reductase-like)|aldose reductase-like 1|aldose reductase-like peptide|aldose reductase-related protein|hARP|small intestine reductase |
| Cytoband | 7q33 |
| Gene type | protein-coding |
| Synonymous | MIM:604707; HGNC:HGNC:382; Ensembl:ENSG00000198074; HPRD:05271; Vega:OTTHUMG00000155356 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.331C>A; p.H111N; 7:134532004-134532004 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>A; p.L100M; 7:134531971-134531971 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.438_439GG>AA; p.E147K; 7:134536658-134536659 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.932C>A; p.P311H; 7:134541070-134541070 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.764A>C; p.Q255P; 7:134538216-134538216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724delA; p.T244fs*6; 7:134537644-134537644 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.724delA; p.T244fs*6; 7:134537644-134537644 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.576A>G; p.T192T; 7:134537074-134537074 |
thyroid | other; neoplasm | Substitution - coding silent |
c.576A>G; p.T192T; 7:134537074-134537074 |
thyroid | other; neoplasm | Substitution - coding silent |
c.576A>G; p.T192T; 7:134537074-134537074 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.576A>G; p.T192T; 7:134537074-134537074 |
thyroid | other; neoplasm | Substitution - coding silent |
c.576A>G; p.T192T; 7:134537074-134537074 |
thyroid | other; neoplasm | Substitution - coding silent |
c.576A>G; p.T192T; 7:134537074-134537074 |
breast | carcinoma | Substitution - coding silent |
c.576A>G; p.T192T; 7:134537074-134537074 |
thyroid | other; neoplasm | Substitution - coding silent |
c.738C>T; p.A246A; 7:134537658-134537658 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.876C>T; p.F292F; 7:134538985-134538985 |
skin | malignant_melanoma | Substitution - coding silent |
c.289C>T; p.L97F; 7:134531962-134531962 |
skin | malignant_melanoma | Substitution - Missense |
c.922G>T; p.E308*; 7:134541060-134541060 |
NS | NS | Substitution - Nonsense |
c.241C>T; p.P81S; 7:134531914-134531914 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.339A>G; p.P113P; 7:134532012-134532012 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.835T>G; p.F279V; 7:134538944-134538944 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.762C>T; p.I254I; 7:134538214-134538214 |
skin | malignant_melanoma | Substitution - coding silent |
c.197A>G; p.K66R; 7:134530773-134530773 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.531A>G; p.K177K; 7:134536751-134536751 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.468C>T; p.A156A; 7:134536688-134536688 |
skin | malignant_melanoma | Substitution - coding silent |
c.750C>T; p.I250I; 7:134538202-134538202 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.713C>T; p.A238V; 7:134537633-134537633 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.295G>A; p.D99N; 7:134531968-134531968 |
bone; rib | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.114A>G; p.A38A; 7:134530690-134530690 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.911C>T; p.S304F; 7:134541049-134541049 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.167G>A; p.G56E; 7:134530743-134530743 |
skin | malignant_melanoma | Substitution - Missense |
c.730A>C; p.T244P; 7:134537650-134537650 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.355G>T; p.G119W; 7:134533007-134533007 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.9G>A; p.T3T; 7:134527920-134527920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.803C>A; p.A268E; 7:134538255-134538255 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.417G>A; p.L139L; 7:134533069-134533069 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.407C>T; p.A136V; 7:134533059-134533059 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.502G>A; p.E168K; 7:134536722-134536722 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.823C>A; p.Q275K; 7:134538275-134538275 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.344G>A; p.G115E; 7:134532017-134532017 |
skin | malignant_melanoma | Substitution - Missense |
c.556G>C; p.E186Q; 7:134537054-134537054 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.282G>C; p.E94D; 7:134531955-134531955 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.908A>C; p.Q303P; 7:134539017-134539017 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.803C>T; p.A268V; 7:134538255-134538255 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.397G>A; p.G133S; 7:134533049-134533049 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.396C>T; p.I132I; 7:134533048-134533048 |
skin | malignant_melanoma | Substitution - coding silent |
c.356G>T; p.G119V; 7:134533008-134533008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.534T>C; p.Y178Y; 7:134536754-134536754 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.34A>T; p.K12*; 7:134527945-134527945 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.34A>T; p.K12*; 7:134527945-134527945 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.75T>C; p.L25L; 7:134530651-134530651 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.75T>C; p.L25L; 7:134530651-134530651 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.75T>C; p.L25L; 7:134530651-134530651 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.785C>A; p.P262H; 7:134538237-134538237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.214G>A; p.D72N; 7:134530790-134530790 |
skin | malignant_melanoma | Substitution - Missense |
c.154G>T; p.E52*; 7:134530730-134530730 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.691G>A; p.D231N; 7:134537611-134537611 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.804A>C; p.A268A; 7:134538256-134538256 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - coding silent |
c.283A>G; p.K95E; 7:134531956-134531956 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.283A>G; p.K95E; 7:134531956-134531956 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.270G>A; p.R90R; 7:134531943-134531943 |
skin | malignant_melanoma | Substitution - coding silent |
c.225C>T; p.I75I; 7:134530801-134530801 |
skin | malignant_melanoma | Substitution - coding silent |
c.778G>C; p.V260L; 7:134538230-134538230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.259C>T; p.P87S; 7:134531932-134531932 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.259C>T; p.P87S; 7:134531932-134531932 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.681C>G; p.S227S; 7:134537601-134537601 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.900C>T; p.N300N; 7:134539009-134539009 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.42C>T; p.P14P; 7:134527953-134527953 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.67-8C>T; p.?; 7:134530635-134530635 |
skin; knee | malignant_melanoma | Unknown |
c.104C>T; p.A35V; 7:134530680-134530680 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.489C>G; p.S163R; 7:134536709-134536709 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.733G>A; p.A245T; 7:134537653-134537653 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.895T>A; p.C299S; 7:134539004-134539004 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.587T>G; p.L196R; 7:134537085-134537085 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.400G>A; p.G134R; 7:134533052-134533052 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.400G>A; p.G134R; 7:134533052-134533052 |
skin | malignant_melanoma | Substitution - Missense |
c.400G>A; p.G134R; 7:134533052-134533052 |
skin | malignant_melanoma | Substitution - Missense |
c.806G>T; p.R269L; 7:134538258-134538258 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8C>T; p.T3M; 7:134527919-134527919 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.189_190CC>TT; p.Q64*; 7:134530765-134530766 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.757C>T; p.H253Y; 7:134538209-134538209 |
skin | malignant_melanoma | Substitution - Missense |
c.624G>A; p.T208T; 7:134537122-134537122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.624G>A; p.T208T; 7:134537122-134537122 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.446T>G; p.V149G; 7:134536666-134536666 |
breast | carcinoma | Substitution - Missense |
c.181G>T; p.E61*; 7:134530757-134530757 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.84G>T; p.V28V; 7:134530660-134530660 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.413T>C; p.F138S; 7:134533065-134533065 |
skin | malignant_melanoma | Substitution - Missense |
c.582G>T; p.E194D; 7:134537080-134537080 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.388A>T; p.N130Y; 7:134533040-134533040 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.649G>A; p.D217N; 7:134537147-134537147 |
skin | malignant_melanoma | Substitution - Missense |
c.721C>A; p.H241N; 7:134537641-134537641 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.742-2A>C; p.?; 7:134538192-134538192 |
skin; upper_arm | malignant_melanoma | Unknown |
c.260C>T; p.P87L; 7:134531933-134531933 |
skin | malignant_melanoma | Substitution - Missense |
c.765G>C; p.Q255H; 7:134538217-134538217 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>A; p.T244T; 7:134537652-134537652 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.267G>A; p.V89V; 7:134531940-134531940 |
liver | carcinoma | Substitution - coding silent |
c.706G>A; p.E236K; 7:134537626-134537626 |
skin | malignant_melanoma | Substitution - Missense |
c.933C>A; p.P311P; 7:134541071-134541071 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.682C>T; p.L228L; 7:134537602-134537602 |
skin | malignant_melanoma | Substitution - coding silent |