| Gene ID | 8491 |
| Symbol | MAP4K3 |
| Synonymous | GLK|MAPKKKK3|MEKKK 3|MEKKK3|RAB8IPL1 |
| Full name | mitogen-activated protein kinase kinase kinase kinase 3 |
| Gene description | MAPK/ERK kinase kinase kinase 3|MEK kinase kinase 3|germinal center kinase-like kinase|germinal center kinase-related protein kinase |
| Cytoband | 2p22.1 |
| Gene type | protein-coding |
| Synonymous | MIM:604921; HGNC:HGNC:6865; Ensembl:ENSG00000011566; HPRD:05373; Vega:OTTHUMG00000102127 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1621A>G; p.K541E; 2:39282521-39282521 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1359T>G; p.D453E; 2:39288236-39288236 |
skin | malignant_melanoma | Substitution - Missense |
c.2276C>A; p.P759Q; 2:39260638-39260638 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2191C>T; p.P731S; 2:39260723-39260723 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1354G>A; p.E452K; 2:39288241-39288241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.781_782insA; p.R261fs*5; 2:39325755-39325756 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.781_782insA; p.R261fs*5; 2:39325755-39325756 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1855+9A>C; p.?; 2:39272473-39272473 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.586G>A; p.D196N; 2:39326222-39326222 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.162C>A; p.D54E; 2:39356332-39356332 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.400C>T; p.H134Y; 2:39336934-39336934 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1804C>T; p.R602*; 2:39272533-39272533 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1804C>T; p.R602*; 2:39272533-39272533 |
breast | carcinoma | Substitution - Nonsense |
c.627G>T; p.E209D; 2:39326181-39326181 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.627G>T; p.E209D; 2:39326181-39326181 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.34C>A; p.P12T; 2:39436954-39436954 |
prostate | carcinoma | Substitution - Missense |
c.983G>T; p.R328L; 2:39315324-39315324 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.94A>G; p.K32E; 2:39436894-39436894 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1230A>G; p.A410A; 2:39292814-39292814 |
breast | carcinoma | Substitution - coding silent |
c.1271+4A>G; p.?; 2:39292769-39292769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2385A>G; p.I795M; 2:39258433-39258433 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.80A>G; p.Y27C; 2:39436908-39436908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2143G>T; p.D715Y; 2:39260771-39260771 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1469C>T; p.A490V; 2:39288126-39288126 |
skin | malignant_melanoma | Substitution - Missense |
c.1805G>T; p.R602L; 2:39272532-39272532 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.683A>C; p.K228T; 2:39325941-39325941 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2111C>A; p.P704Q; 2:39265228-39265228 |
skin | malignant_melanoma | Substitution - Missense |
c.2282C>T; p.S761F; 2:39260632-39260632 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1715-1G>A; p.?; 2:39278487-39278487 |
urinary_tract; bladder | carcinoma | Unknown |
c.226T>C; p.Y76H; 2:39356268-39356268 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2558C>T; p.S853L; 2:39251869-39251869 |
skin | malignant_melanoma | Substitution - Missense |
c.2558C>T; p.S853L; 2:39251869-39251869 |
skin | malignant_melanoma | Substitution - Missense |
c.2615G>A; p.S872N; 2:39250688-39250688 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>A; p.G123R; 2:39336967-39336967 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.616G>C; p.E206Q; 2:39326192-39326192 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.435G>A; p.T145T; 2:39333554-39333554 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.1418A>G; p.Q473R; 2:39288177-39288177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2363T>A; p.L788H; 2:39258533-39258533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1218A>G; p.R406R; 2:39292826-39292826 |
ovary | other; neoplasm | Substitution - coding silent |
c.784C>A; p.P262T; 2:39325753-39325753 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.927T>C; p.V309V; 2:39315380-39315380 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1241A>G; p.D414G; 2:39292803-39292803 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2155C>T; p.P719S; 2:39260759-39260759 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1230A>T; p.A410A; 2:39292814-39292814 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.964G>A; p.V322M; 2:39315343-39315343 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1237G>T; p.E413*; 2:39292807-39292807 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1763T>C; p.L588P; 2:39278438-39278438 |
skin | malignant_melanoma | Substitution - Missense |
c.1795-7delT; p.?; 2:39272549-39272549 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.2103G>T; p.W701C; 2:39265236-39265236 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2379T>C; p.C793C; 2:39258439-39258439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2379T>C; p.C793C; 2:39258439-39258439 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1294C>T; p.P432S; 2:39290312-39290312 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.545T>C; p.V182A; 2:39326263-39326263 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.545T>C; p.V182A; 2:39326263-39326263 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2090T>G; p.V697G; 2:39265249-39265249 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.246G>A; p.R82R; 2:39343452-39343452 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1730T>G; p.F577C; 2:39278471-39278471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.950C>T; p.S317L; 2:39315357-39315357 |
skin | malignant_melanoma | Substitution - Missense |
c.1000G>T; p.G334C; 2:39309517-39309517 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717C>T; p.Q573*; 2:39278484-39278484 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2490G>A; p.V830V; 2:39254501-39254501 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.23C>T; p.S8F; 2:39436965-39436965 |
skin | malignant_melanoma | Substitution - Missense |
c.835C>T; p.R279W; 2:39325601-39325601 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314C>G; p.T105S; 2:39337578-39337578 |
liver | carcinoma | Substitution - Missense |
c.1695G>C; p.W565C; 2:39280291-39280291 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.314C>G; p.T105S; 2:39337578-39337578 |
liver | carcinoma | Substitution - Missense |
c.626A>G; p.E209G; 2:39326182-39326182 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.626A>G; p.E209G; 2:39326182-39326182 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.626A>G; p.E209G; 2:39326182-39326182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2503A>T; p.K835*; 2:39254488-39254488 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1243G>T; p.D415Y; 2:39292801-39292801 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1984G>T; p.V662L; 2:39267237-39267237 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2522G>A; p.R841K; 2:39254469-39254469 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2419A>T; p.S807C; 2:39258399-39258399 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2258G>A; p.R753Q; 2:39260656-39260656 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2258G>A; p.R753Q; 2:39260656-39260656 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2519G>A; p.G840D; 2:39254472-39254472 |
liver | carcinoma | Substitution - Missense |
c.2378G>A; p.C793Y; 2:39258440-39258440 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2519G>A; p.G840D; 2:39254472-39254472 |
liver | carcinoma | Substitution - Missense |
c.2519G>A; p.G840D; 2:39254472-39254472 |
liver | carcinoma | Substitution - Missense |
c.588T>C; p.D196D; 2:39326220-39326220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1233T>G; p.H411Q; 2:39292811-39292811 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1603G>A; p.G535S; 2:39282539-39282539 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.877G>T; p.D293Y; 2:39325559-39325559 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2650T>C; p.L884L; 2:39250653-39250653 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2427A>C; p.K809N; 2:39258391-39258391 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2257C>T; p.R753*; 2:39260657-39260657 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2257C>T; p.R753*; 2:39260657-39260657 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.379C>T; p.L127F; 2:39336955-39336955 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1737C>T; p.A579A; 2:39278464-39278464 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2309-1G>A; p.?; 2:39258588-39258588 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1939C>T; p.P647S; 2:39272317-39272317 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.185T>G; p.I62S; 2:39356309-39356309 |
skin | malignant_melanoma | Substitution - Missense |
c.2201A>G; p.E734G; 2:39260713-39260713 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1570G>C; p.E524Q; 2:39286869-39286869 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104I; 2:39343388-39343388 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1247A>G; p.E416G; 2:39292797-39292797 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.950C>G; p.S317*; 2:39315357-39315357 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1102A>C; p.T368P; 2:39307960-39307960 |
skin | malignant_melanoma | Substitution - Missense |
c.1051G>A; p.E351K; 2:39309466-39309466 |
pancreas | NS | Substitution - Missense |
c.1886T>G; p.L629*; 2:39272370-39272370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1598G>C; p.S533T; 2:39282544-39282544 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.160G>A; p.D54N; 2:39356334-39356334 |
NS | NS | Substitution - Missense |
c.1417C>A; p.Q473K; 2:39288178-39288178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.544G>T; p.V182F; 2:39326264-39326264 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.832A>G; p.T278A; 2:39325604-39325604 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2174T>C; p.F725S; 2:39260740-39260740 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2142A>G; p.I714M; 2:39260772-39260772 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1878C>T; p.S626S; 2:39272378-39272378 |
skin | malignant_melanoma | Substitution - coding silent |
c.249A>T; p.R83R; 2:39343449-39343449 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1639T>G; p.C547G; 2:39280347-39280347 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1639T>G; p.C547G; 2:39280347-39280347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.866T>G; p.V289G; 2:39325570-39325570 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1888C>T; p.P630S; 2:39272368-39272368 |
skin | malignant_melanoma | Substitution - Missense |
c.2349G>A; p.E783E; 2:39258547-39258547 |
skin | malignant_melanoma | Substitution - coding silent |
c.1369G>T; p.G457*; 2:39288226-39288226 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.536C>T; p.A179V; 2:39326272-39326272 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.588T>A; p.D196E; 2:39326220-39326220 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.509C>T; p.S170F; 2:39331938-39331938 |
skin | malignant_melanoma | Substitution - Missense |
c.849C>T; p.I283I; 2:39325587-39325587 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.919-2A>G; p.?; 2:39315390-39315390 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.72C>T; p.S24S; 2:39436916-39436916 |
liver | carcinoma | Substitution - coding silent |
c.85G>A; p.D29N; 2:39436903-39436903 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.72C>T; p.S24S; 2:39436916-39436916 |
liver | carcinoma | Substitution - coding silent |
c.2005A>T; p.T669S; 2:39267216-39267216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2005A>T; p.T669S; 2:39267216-39267216 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1997T>A; p.I666N; 2:39267224-39267224 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997T>A; p.I666N; 2:39267224-39267224 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1668C>T; p.P556P; 2:39280318-39280318 |
skin | malignant_melanoma | Substitution - coding silent |
c.2067T>A; p.C689*; 2:39265272-39265272 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.1219G>A; p.G407R; 2:39292825-39292825 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.900C>T; p.F300F; 2:39325536-39325536 |
breast | carcinoma | Substitution - coding silent |
c.900C>T; p.F300F; 2:39325536-39325536 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1610C>T; p.P537L; 2:39282532-39282532 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1855+9A>T; p.?; 2:39272473-39272473 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1954C>T; p.P652S; 2:39272302-39272302 |
skin | malignant_melanoma | Substitution - Missense |
c.869A>T; p.N290I; 2:39325567-39325567 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2184G>T; p.L728L; 2:39260730-39260730 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1419A>C; p.Q473H; 2:39288176-39288176 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1973G>A; p.R658K; 2:39272283-39272283 |
skin | malignant_melanoma | Substitution - Missense |
c.1240G>C; p.D414H; 2:39292804-39292804 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2667T>C; p.G889G; 2:39250636-39250636 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2678G>T; p.S893I; 2:39250625-39250625 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.764C>T; p.T255I; 2:39325773-39325773 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1463C>A; p.P488H; 2:39288132-39288132 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.35C>G; p.P12R; 2:39436953-39436953 |
skin | malignant_melanoma | Substitution - Missense |
c.502C>T; p.R168W; 2:39331945-39331945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2578A>T; p.R860W; 2:39251849-39251849 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.90C>T; p.V30V; 2:39436898-39436898 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.432A>C; p.L144F; 2:39333557-39333557 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.602G>T; p.G201V; 2:39326206-39326206 |
breast | carcinoma | Substitution - Missense |
c.401A>C; p.H134P; 2:39336933-39336933 |
skin | malignant_melanoma | Substitution - Missense |
c.2486G>T; p.S829I; 2:39254505-39254505 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1606C>A; p.L536I; 2:39282536-39282536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.663-2A>T; p.?; 2:39325963-39325963 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.1289A>C; p.K430T; 2:39290317-39290317 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2071G>A; p.A691T; 2:39265268-39265268 |
stomach | carcinoma | Substitution - Missense |
c.872A>C; p.N291T; 2:39325564-39325564 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2005A>G; p.T669A; 2:39267216-39267216 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2005A>G; p.T669A; 2:39267216-39267216 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.603A>C; p.G201G; 2:39326205-39326205 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1619C>A; p.P540H; 2:39282523-39282523 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2398C>A; p.L800I; 2:39258420-39258420 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1145G>A; p.G382E; 2:39299776-39299776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.181G>A; p.E61K; 2:39356313-39356313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1635T>G; p.G545G; 2:39280351-39280351 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.997+2T>A; p.?; 2:39315308-39315308 |
liver | carcinoma | Unknown |
c.155-2_155delAGG; p.?; 2:39356339-39356341 |
breast | carcinoma | Unknown |
c.444T>C; p.G148G; 2:39333545-39333545 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1746G>T; p.G582G; 2:39278455-39278455 |
skin | malignant_melanoma | Substitution - coding silent |
c.132T>C; p.I44I; 2:39378088-39378088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2058A>C; p.K686N; 2:39265281-39265281 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |