| Gene ID | 10163 |
| Symbol | WASF2 |
| Synonymous | IMD2|SCAR2|WASF4|WAVE2|dJ393P12.2 |
| Full name | WAS protein family, member 2 |
| Gene description | WASP family Verprolin-homologous protein 2|WASP family protein member 2|WASP family protein member 4|protein WAVE-2|putative Wiskott-Aldrich syndrome protein family member 4|suppressor of cyclic-AMP receptor (WASP-family)|verprolin homology domain-contain |
| Cytoband | 1p36.11 |
| Gene type | protein-coding |
| Synonymous | MIM:605875; HGNC:HGNC:12733; Ensembl:ENSG00000158195; HPRD:05796; Vega:OTTHUMG00000003393 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.581G>A; p.R194H; 1:27414920-27414920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.81C>T; p.C27C; 1:27428810-27428810 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.81C>T; p.C27C; 1:27428810-27428810 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.81C>T; p.C27C; 1:27428810-27428810 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.185C>G; p.A62G; 1:27419034-27419034 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.604G>C; p.E202Q; 1:27414897-27414897 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.871A>G; p.R291G; 1:27410160-27410160 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6G>A; p.P2P; 1:27428885-27428885 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.788C>T; p.S263F; 1:27412608-27412608 |
skin | malignant_melanoma | Substitution - Missense |
c.169C>G; p.Q57E; 1:27419050-27419050 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.198C>A; p.S66R; 1:27419021-27419021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.760T>A; p.S254T; 1:27412636-27412636 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.894C>T; p.S298S; 1:27410137-27410137 |
skin | malignant_melanoma | Substitution - coding silent |
c.1188T>C; p.P396P; 1:27409843-27409843 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1052C>T; p.S351L; 1:27409979-27409979 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.172G>A; p.A58T; 1:27419047-27419047 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.361T>C; p.L121L; 1:27418327-27418327 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.43C>G; p.R15G; 1:27428848-27428848 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.904C>A; p.P302T; 1:27410127-27410127 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.423C>T; p.D141D; 1:27416099-27416099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.15G>A; p.T5T; 1:27428876-27428876 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.217G>A; p.D73N; 1:27419002-27419002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>A; p.D184N; 1:27414951-27414951 |
pancreas | carcinoma | Substitution - Missense |
c.273G>A; p.L91L; 1:27418415-27418415 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.171G>T; p.Q57H; 1:27419048-27419048 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.596G>A; p.R199H; 1:27414905-27414905 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1211C>T; p.P404L; 1:27409820-27409820 |
skin | malignant_melanoma | Substitution - Missense |
c.142G>A; p.E48K; 1:27419077-27419077 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.516G>A; p.M172I; 1:27416006-27416006 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.356C>T; p.P119L; 1:27418332-27418332 |
skin | malignant_melanoma | Substitution - Missense |
c.1005A>G; p.P335P; 1:27410026-27410026 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.782C>T; p.S261F; 1:27412614-27412614 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.316C>T; p.Q106*; 1:27418372-27418372 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.531G>A; p.K177K; 1:27415991-27415991 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.388C>T; p.P130S; 1:27418300-27418300 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.15G>T; p.T5T; 1:27428876-27428876 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - coding silent |
c.298T>A; p.F100I; 1:27418390-27418390 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1182C>T; p.P394P; 1:27409849-27409849 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.112C>T; p.R38*; 1:27428779-27428779 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1084G>T; p.A362S; 1:27409947-27409947 |
skin | malignant_melanoma | Substitution - Missense |
c.443A>C; p.K148T; 1:27416079-27416079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1074C>T; p.H358H; 1:27409957-27409957 |
skin | malignant_melanoma | Substitution - coding silent |
c.552T>C; p.D184D; 1:27414949-27414949 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1332C>T; p.I444I; 1:27409699-27409699 |
skin | malignant_melanoma | Substitution - coding silent |
c.478T>C; p.W160R; 1:27416044-27416044 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.358G>C; p.V120L; 1:27418330-27418330 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.892A>G; p.S298G; 1:27410139-27410139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.711T>C; p.C237C; 1:27412685-27412685 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.156A>G; p.G52G; 1:27419063-27419063 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.698G>A; p.G233D; 1:27412698-27412698 |
skin | malignant_melanoma | Substitution - Missense |
c.406C>G; p.L136V; 1:27418282-27418282 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.803C>A; p.P268H; 1:27412593-27412593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302C>T; p.S434S; 1:27409729-27409729 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.889_890CC>TT; p.P297L; 1:27410141-27410142 |
skin | malignant_melanoma | Substitution - Missense |
c.439C>T; p.L147F; 1:27416083-27416083 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.741G>A; p.P247P; 1:27412655-27412655 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.324G>T; p.Q108H; 1:27418364-27418364 |
breast | carcinoma | Substitution - Missense |
c.802C>G; p.P268A; 1:27412594-27412594 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.804T>C; p.P268P; 1:27412592-27412592 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.208G>C; p.E70Q; 1:27419011-27419011 |
breast | carcinoma | Substitution - Missense |
c.804T>C; p.P268P; 1:27412592-27412592 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.320A>G; p.D107G; 1:27418368-27418368 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.786C>G; p.F262L; 1:27412610-27412610 |
breast | carcinoma | Substitution - Missense |
c.208G>A; p.E70K; 1:27419011-27419011 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.830C>T; p.P277L; 1:27410201-27410201 |
skin | malignant_melanoma | Substitution - Missense |
c.208G>A; p.E70K; 1:27419011-27419011 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.737A>G; p.Y246C; 1:27412659-27412659 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.835G>A; p.D279N; 1:27410196-27410196 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.942C>G; p.P314P; 1:27410089-27410089 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.541G>T; p.E181*; 1:27414960-27414960 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.584A>C; p.K195T; 1:27414917-27414917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.541G>T; p.E181*; 1:27414960-27414960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.263A>G; p.E88G; 1:27418956-27418956 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.135A>C; p.K45N; 1:27419084-27419084 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.449A>G; p.Y150C; 1:27416073-27416073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |