| Gene ID | 10146 |
| Symbol | G3BP1 |
| Synonymous | G3BP|HDH-VIII |
| Full name | GTPase activating protein (SH3 domain) binding protein 1 |
| Gene description | ATP-dependent DNA helicase VIII|G3BP-1|GAP SH3 domain-binding protein 1|GAP binding protein|Ras-GTPase-activating protein SH3-domain-binding protein|RasGAP-associated endoribonuclease G3BP|ras GTPase-activating protein-binding protein 1 |
| Cytoband | 5q33.1 |
| Gene type | protein-coding |
| Synonymous | MIM:608431; HGNC:HGNC:30292; Ensembl:ENSG00000145907; HPRD:06569; Vega:OTTHUMG00000130123 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1007A>C; p.H336P; 5:151800269-151800269 |
breast | carcinoma | Substitution - Missense |
c.1163C>T; p.S388F; 5:151800838-151800838 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.234C>T; p.R78R; 5:151790945-151790945 |
skin | malignant_melanoma | Substitution - coding silent |
c.773A>C; p.N258T; 5:151799243-151799243 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.209T>C; p.F70S; 5:151790920-151790920 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1029C>T; p.F343F; 5:151800291-151800291 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.338T>C; p.V113A; 5:151791049-151791049 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.116C>T; p.S39F; 5:151790343-151790343 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.901C>G; p.Q301E; 5:151799946-151799946 |
breast | carcinoma | Substitution - Missense |
c.368A>C; p.K123T; 5:151794175-151794175 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.55T>C; p.Y19H; 5:151786675-151786675 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.55T>C; p.Y19H; 5:151786675-151786675 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.844-3C>T; p.?; 5:151799886-151799886 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.947C>G; p.P316R; 5:151799992-151799992 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.750T>C; p.S250S; 5:151799220-151799220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.944G>A; p.G315E; 5:151799989-151799989 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1391C>T; p.P464L; 5:151804081-151804081 |
breast | carcinoma | Substitution - Missense |
c.1271G>A; p.R424Q; 5:151803961-151803961 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.204A>C; p.Q68H; 5:151790915-151790915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.333G>A; p.T111T; 5:151791044-151791044 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.352G>T; p.G118W; 5:151794159-151794159 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.352G>T; p.G118W; 5:151794159-151794159 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>G; p.P282A; 5:151799889-151799889 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.157G>A; p.D53N; 5:151790384-151790384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.887G>T; p.R296I; 5:151799932-151799932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.887G>T; p.R296I; 5:151799932-151799932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1107G>T; p.L369F; 5:151800782-151800782 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.920G>A; p.R307Q; 5:151799965-151799965 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.920G>A; p.R307Q; 5:151799965-151799965 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.920G>A; p.R307Q; 5:151799965-151799965 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.783C>T; p.P261P; 5:151799253-151799253 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1394G>A; p.R465Q; 5:151804084-151804084 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.869C>G; p.S290C; 5:151799914-151799914 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.531A>T; p.A177A; 5:151795567-151795567 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.249T>C; p.H83H; 5:151790960-151790960 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.108G>T; p.K36N; 5:151790335-151790335 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.344C>T; p.A115V; 5:151791055-151791055 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.168C>T; p.Y56Y; 5:151790395-151790395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.572T>A; p.V191D; 5:151797259-151797259 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267C>T; p.R423*; 5:151803957-151803957 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1267C>T; p.R423*; 5:151803957-151803957 |
skin; abdomen | malignant_melanoma | Substitution - Nonsense |
c.1109G>A; p.R370H; 5:151800784-151800784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.483A>G; p.Q161Q; 5:151795519-151795519 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1095C>T; p.N365N; 5:151800770-151800770 |
pancreas | carcinoma | Substitution - coding silent |
c.631C>T; p.Q211*; 5:151797318-151797318 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1342G>A; p.G448R; 5:151804032-151804032 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.488C>A; p.P163H; 5:151795524-151795524 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1230C>T; p.V410V; 5:151803920-151803920 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.152C>T; p.P51L; 5:151790379-151790379 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1A>G; p.M1V; 5:151786621-151786621 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.265G>T; p.G89C; 5:151790976-151790976 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.152C>T; p.P51L; 5:151790379-151790379 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 5:151799892-151799892 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034G>A; p.G345D; 5:151800296-151800296 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.744_745insT; p.S250fs*8; 5:151799214-151799215 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.847C>T; p.R283C; 5:151799892-151799892 |
skin | malignant_melanoma | Substitution - Missense |
c.463G>A; p.E155K; 5:151795499-151795499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1219C>T; p.R407C; 5:151803909-151803909 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.634G>T; p.E212*; 5:151797321-151797321 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1304G>A; p.R435Q; 5:151803994-151803994 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1266C>T; p.D422D; 5:151803956-151803956 |
skin; abdomen | malignant_melanoma | Substitution - coding silent |
c.31G>T; p.V11F; 5:151786651-151786651 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.775C>G; p.L259V; 5:151799245-151799245 |
breast | carcinoma | Substitution - Missense |
c.388A>G; p.I130V; 5:151794195-151794195 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.64C>T; p.L22L; 5:151786684-151786684 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1339C>T; p.R447C; 5:151804029-151804029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.867A>T; p.E289D; 5:151799912-151799912 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1339C>T; p.R447C; 5:151804029-151804029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.867A>T; p.E289D; 5:151799912-151799912 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.177+1G>T; p.?; 5:151790405-151790405 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.52C>T; p.Q18*; 5:151786672-151786672 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.233G>A; p.R78H; 5:151790944-151790944 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.968G>C; p.G323A; 5:151800230-151800230 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.233G>A; p.R78H; 5:151790944-151790944 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.290T>A; p.L97H; 5:151791001-151791001 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.955+1G>A; p.?; 5:151800001-151800001 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.652G>A; p.V218I; 5:151797339-151797339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.754G>A; p.A252T; 5:151799224-151799224 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1389G>A; p.A463A; 5:151804079-151804079 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.930T>C; p.I310I; 5:151799975-151799975 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.278A>G; p.Q93R; 5:151790989-151790989 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1072G>A; p.D358N; 5:151800334-151800334 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.58T>C; p.Y20H; 5:151786678-151786678 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1280G>A; p.R427H; 5:151803970-151803970 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>A; p.V126I; 5:151794183-151794183 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.865G>A; p.E289K; 5:151799910-151799910 |
breast | carcinoma | Substitution - Missense |
c.865G>A; p.E289K; 5:151799910-151799910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1013A>T; p.D338V; 5:151800275-151800275 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.343G>T; p.A115S; 5:151791054-151791054 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.670C>T; p.P224S; 5:151797357-151797357 |
skin; arm | malignant_melanoma | Substitution - Missense |