| Gene ID | 79137 |
| Symbol | FAM134A |
| Synonymous | C2orf17 |
| Full name | family with sequence similarity 134, member A |
| Gene description | protein FAM134A |
| Cytoband | 2q35 |
| Gene type | protein-coding |
| Synonymous | HGNC:HGNC:28450; Ensembl:ENSG00000144567; HPRD:12807; Vega:OTTHUMG00000154577 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.849C>T; p.S283S; 2:219181433-219181433 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.849C>T; p.S283S; 2:219181433-219181433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24T>G; p.G8G; 2:219178376-219178376 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.404A>G; p.E135G; 2:219179748-219179748 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.613C>T; p.P205S; 2:219180727-219180727 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.711G>T; p.E237D; 2:219181132-219181132 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249_1250insC; p.D420fs*40; 2:219182246-219182247 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.556T>A; p.F186I; 2:219180670-219180670 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.1358T>C; p.L453P; 2:219182355-219182355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1358T>C; p.L453P; 2:219182355-219182355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1358T>C; p.L453P; 2:219182355-219182355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.763C>T; p.H255Y; 2:219181184-219181184 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1384C>T; p.P462S; 2:219182381-219182381 |
skin | malignant_melanoma | Substitution - Missense |
c.1414C>T; p.Q472*; 2:219182411-219182411 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.967T>A; p.F323I; 2:219181727-219181727 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.808C>T; p.P270S; 2:219181392-219181392 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.887T>C; p.V296A; 2:219181647-219181647 |
prostate | carcinoma | Substitution - Missense |
c.1450G>C; p.E484Q; 2:219182447-219182447 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.428C>T; p.A143V; 2:219180118-219180118 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357C>T; p.L453F; 2:219182354-219182354 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1440C>T; p.A480A; 2:219182437-219182437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.955G>C; p.E319Q; 2:219181715-219181715 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.955G>C; p.E319Q; 2:219181715-219181715 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.290C>T; p.S97F; 2:219178930-219178930 |
skin | malignant_melanoma | Substitution - Missense |
c.1485G>C; p.L495L; 2:219182482-219182482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1256C>A; p.P419Q; 2:219182253-219182253 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1395C>T; p.S465S; 2:219182392-219182392 |
skin | malignant_melanoma | Substitution - coding silent |
c.803C>T; p.A268V; 2:219181387-219181387 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.75T>C; p.G25G; 2:219178427-219178427 |
thyroid | other; neoplasm | Substitution - coding silent |
c.157G>T; p.A53S; 2:219178509-219178509 |
thyroid | other; neoplasm | Substitution - Missense |
c.1553C>T; p.P518L; 2:219182550-219182550 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1322G>A; p.G441D; 2:219182319-219182319 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1601A>G; p.D534G; 2:219182598-219182598 |
skin | malignant_melanoma | Substitution - Missense |
c.1325T>C; p.L442P; 2:219182322-219182322 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.443G>A; p.R148Q; 2:219180133-219180133 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.422A>G; p.E141G; 2:219180112-219180112 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1154C>T; p.S385L; 2:219182151-219182151 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.429_430GG>AA; p.G144R; 2:219180119-219180120 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.498C>T; p.L166L; 2:219180188-219180188 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.498C>T; p.L166L; 2:219180188-219180188 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1413C>T; p.P471P; 2:219182410-219182410 |
skin | malignant_melanoma | Substitution - coding silent |
c.565C>T; p.R189*; 2:219180679-219180679 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.421G>T; p.E141*; 2:219180111-219180111 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.969C>T; p.F323F; 2:219181729-219181729 |
pancreas | carcinoma | Substitution - coding silent |
c.780G>A; p.K260K; 2:219181201-219181201 |
breast | carcinoma | Substitution - coding silent |
c.503T>A; p.F168Y; 2:219180193-219180193 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1542G>A; p.P514P; 2:219182539-219182539 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1390C>T; p.P464S; 2:219182387-219182387 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.951C>T; p.I317I; 2:219181711-219181711 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.951C>T; p.I317I; 2:219181711-219181711 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1271G>A; p.C424Y; 2:219182268-219182268 |
skin | malignant_melanoma | Substitution - Missense |
c.1356A>C; p.P452P; 2:219182353-219182353 |
breast | carcinoma | Substitution - coding silent |
c.1359T>C; p.L453L; 2:219182356-219182356 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1288delG; p.V430fs*4; 2:219182285-219182285 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1412C>T; p.P471L; 2:219182409-219182409 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1462A>G; p.T488A; 2:219182459-219182459 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.622A>G; p.M208V; 2:219180736-219180736 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1614G>T; p.Q538H; 2:219182611-219182611 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1339G>A; p.G447S; 2:219182336-219182336 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1339G>A; p.G447S; 2:219182336-219182336 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.664C>T; p.L222L; 2:219181085-219181085 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.296C>G; p.S99W; 2:219178936-219178936 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.296C>G; p.S99W; 2:219178936-219178936 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.578G>A; p.G193D; 2:219180692-219180692 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.578G>A; p.G193D; 2:219180692-219180692 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.458G>A; p.S153N; 2:219180148-219180148 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.795G>A; p.G265G; 2:219181379-219181379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.929T>G; p.L310R; 2:219181689-219181689 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.398C>T; p.P133L; 2:219179742-219179742 |
skin | malignant_melanoma | Substitution - Missense |
c.1135T>C; p.S379P; 2:219182132-219182132 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.423G>C; p.E141D; 2:219180113-219180113 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1424C>T; p.P475L; 2:219182421-219182421 |
prostate | carcinoma | Substitution - Missense |
c.1003G>A; p.D335N; 2:219181763-219181763 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.659G>T; p.W220L; 2:219181080-219181080 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1324C>G; p.L442V; 2:219182321-219182321 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1390C>A; p.P464T; 2:219182387-219182387 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.566G>A; p.R189Q; 2:219180680-219180680 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.425G>A; p.G142D; 2:219180115-219180115 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1230G>A; p.T410T; 2:219182227-219182227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1411C>T; p.P471S; 2:219182408-219182408 |
skin | malignant_melanoma | Substitution - Missense |