| Gene ID | 10928 |
| Symbol | RALBP1 |
| Synonymous | RIP1|RLIP1|RLIP76 |
| Full name | ralA binding protein 1 |
| Gene description | 76 kDa Ral-interacting protein|DNP-SG ATPase|dinitrophenyl S-glutathione ATPase|ral-interacting protein 1|ralA-binding protein 1 |
| Cytoband | 18p11.3 |
| Gene type | protein-coding |
| Synonymous | MIM:605801; HGNC:HGNC:9841; Ensembl:ENSG00000017797; HPRD:09013; Vega:OTTHUMG00000131596 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.211delA; p.K74fs*30; 18:9513256-9513256 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1752C>G; p.I584M; 18:9535721-9535721 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.670G>A; p.G224S; 18:9517270-9517270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1191C>T; p.G397G; 18:9524731-9524731 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.317C>T; p.S106F; 18:9516917-9516917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.632C>T; p.A211V; 18:9517232-9517232 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.642T>C; p.R214R; 18:9517242-9517242 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.202C>G; p.H68D; 18:9513247-9513247 |
breast | carcinoma | Substitution - Missense |
c.1166C>G; p.P389R; 18:9524706-9524706 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1278A>C; p.E426D; 18:9525782-9525782 |
breast | carcinoma | Substitution - Missense |
c.1879G>C; p.E627Q; 18:9535848-9535848 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1546C>T; p.R516C; 18:9533425-9533425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1763G>A; p.R588H; 18:9535732-9535732 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1142G>A; p.R381Q; 18:9524682-9524682 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1580G>A; p.R527H; 18:9533705-9533705 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1064G>A; p.R355Q; 18:9524604-9524604 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1935G>A; p.S645S; 18:9535904-9535904 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1064G>A; p.R355Q; 18:9524604-9524604 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302A>C; p.R434S; 18:9525806-9525806 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1528G>C; p.E510Q; 18:9533407-9533407 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1279G>T; p.E427*; 18:9525783-9525783 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1822G>A; p.D608N; 18:9535791-9535791 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.364G>T; p.E122*; 18:9516964-9516964 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1147T>G; p.S383A; 18:9524687-9524687 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.828G>A; p.E276E; 18:9522284-9522284 |
skin | malignant_melanoma | Substitution - coding silent |
c.1922C>T; p.P641L; 18:9535891-9535891 |
skin | malignant_melanoma | Substitution - Missense |
c.814C>T; p.R272*; 18:9522270-9522270 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1623G>T; p.E541D; 18:9533748-9533748 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.498G>T; p.K166N; 18:9517098-9517098 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.801G>A; p.L267L; 18:9522257-9522257 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.828G>T; p.E276D; 18:9522284-9522284 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1455+1G>C; p.?; 18:9530942-9530942 |
autonomic_ganglia | neuroblastoma | Unknown |
c.1620C>A; p.S540S; 18:9533745-9533745 |
skin | malignant_melanoma | Substitution - coding silent |
c.138G>A; p.E46E; 18:9513183-9513183 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1557T>C; p.A519A; 18:9533436-9533436 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1730T>G; p.I577S; 18:9535699-9535699 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1255G>A; p.G419R; 18:9525759-9525759 |
skin | malignant_melanoma | Substitution - Missense |
c.1254T>G; p.G418G; 18:9525758-9525758 |
breast | carcinoma | Substitution - coding silent |
c.1059C>T; p.S353S; 18:9524599-9524599 |
breast | carcinoma | Substitution - coding silent |
c.393C>A; p.P131P; 18:9516993-9516993 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1082T>A; p.F361Y; 18:9524622-9524622 |
skin | malignant_melanoma | Substitution - Missense |
c.1086A>G; p.T362T; 18:9524626-9524626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1374G>A; p.E458E; 18:9530860-9530860 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1934C>T; p.S645L; 18:9535903-9535903 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1934C>T; p.S645L; 18:9535903-9535903 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.295A>G; p.S99G; 18:9516895-9516895 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.295A>G; p.S99G; 18:9516895-9516895 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1157_1158CC>TT; p.A386V; 18:9524697-9524698 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1590C>T; p.H530H; 18:9533715-9533715 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1590C>T; p.H530H; 18:9533715-9533715 |
skin | malignant_melanoma | Substitution - coding silent |
c.805C>T; p.Q269*; 18:9522261-9522261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.41A>G; p.E14G; 18:9513086-9513086 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.128G>A; p.R43H; 18:9513173-9513173 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1594C>T; p.R532*; 18:9533719-9533719 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.540G>T; p.Q180H; 18:9517140-9517140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1594C>T; p.R532*; 18:9533719-9533719 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.749A>G; p.E250G; 18:9522205-9522205 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.283G>A; p.D95N; 18:9516883-9516883 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1375A>G; p.I459V; 18:9530861-9530861 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1949G>A; p.R650K; 18:9535918-9535918 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.657C>T; p.Y219Y; 18:9517257-9517257 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1528G>A; p.E510K; 18:9533407-9533407 |
pancreas | carcinoma | Substitution - Missense |
c.1873G>A; p.V625I; 18:9535842-9535842 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1515G>A; p.R505R; 18:9533394-9533394 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1626C>T; p.S542S; 18:9533751-9533751 |
breast | carcinoma | Substitution - coding silent |
c.162_163CC>TT; p.H55Y; 18:9513207-9513208 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.387G>A; p.E129E; 18:9516987-9516987 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.124T>C; p.Y42H; 18:9513169-9513169 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1316T>C; p.L439P; 18:9525820-9525820 |
breast | carcinoma | Substitution - Missense |
c.686G>A; p.G229D; 18:9517286-9517286 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1959G>A; p.T653T; 18:9535928-9535928 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.601A>G; p.T201A; 18:9517201-9517201 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.321G>C; p.K107N; 18:9516921-9516921 |
breast | carcinoma | Substitution - Missense |
c.1187C>T; p.A396V; 18:9524727-9524727 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1815G>A; p.A605A; 18:9535784-9535784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1182C>T; p.T394T; 18:9524722-9524722 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1162A>C; p.M388L; 18:9524702-9524702 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1842C>T; p.R614R; 18:9535811-9535811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.703G>T; p.G235*; 18:9517303-9517303 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1840C>T; p.R614C; 18:9535809-9535809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1328T>G; p.L443R; 18:9525832-9525832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.247G>A; p.E83K; 18:9516847-9516847 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.913C>T; p.R305C; 18:9522369-9522369 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.472G>C; p.D158H; 18:9517072-9517072 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.925G>T; p.E309*; 18:9522381-9522381 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.155A>G; p.D52G; 18:9513200-9513200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1240C>T; p.R414*; 18:9525744-9525744 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1488C>T; p.L496L; 18:9533367-9533367 |
skin | malignant_melanoma | Substitution - coding silent |
c.1518G>C; p.Q506H; 18:9533397-9533397 |
pancreas | carcinoma | Substitution - Missense |
c.1938C>T; p.P646P; 18:9535907-9535907 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1073A>G; p.Y358C; 18:9524613-9524613 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.392C>T; p.P131L; 18:9516992-9516992 |
skin | malignant_melanoma | Substitution - Missense |
c.1073A>G; p.Y358C; 18:9524613-9524613 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1063C>T; p.R355*; 18:9524603-9524603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |