| Gene ID | 81839 |
| Symbol | VANGL1 |
| Synonymous | KITENIN|LPP2|STB2|STBM2 |
| Full name | VANGL planar cell polarity protein 1 |
| Gene description | KAI1 C-terminal interacting tetraspanin|loop-tail protein 2 homolog|strabismus 2|van Gogh-like protein 1|vang-like 1 (van gogh, Drosophila)|vang-like protein 1 |
| Cytoband | 1p13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:610132; HGNC:HGNC:15512; Ensembl:ENSG00000173218; HPRD:18279; Vega:OTTHUMG00000011971 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1011_1013delCTC; p.D337_S338>E; 1:115684008-115684010 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Complex - deletion inframe |
c.1011_1013delCTC; p.D337_S338>E; 1:115684008-115684010 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Complex - deletion inframe |
c.882C>T; p.L294L; 1:115682433-115682433 |
skin | malignant_melanoma | Substitution - coding silent |
c.1245G>A; p.Q415Q; 1:115685458-115685458 |
skin | malignant_melanoma | Substitution - coding silent |
c.685G>A; p.A229T; 1:115664141-115664141 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1056G>T; p.R352R; 1:115684053-115684053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.203A>G; p.Q68R; 1:115659772-115659772 |
skin | malignant_melanoma | Substitution - Missense |
c.1358A>T; p.Y453F; 1:115691162-115691162 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.509delT; p.F172fs*99; 1:115663965-115663965 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.605delT; p.Y204fs*67; 1:115664061-115664061 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.635G>A; p.R212Q; 1:115664091-115664091 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.509delT; p.F172fs*99; 1:115663965-115663965 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.509delT; p.F172fs*99; 1:115663965-115663965 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.635G>A; p.R212Q; 1:115664091-115664091 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.509delT; p.F172fs*99; 1:115663965-115663965 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.325C>T; p.R109C; 1:115663781-115663781 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.339C>T; p.L113L; 1:115663795-115663795 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.529G>C; p.A177P; 1:115663985-115663985 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.318T>A; p.D106E; 1:115663774-115663774 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.922G>T; p.G308W; 1:115682473-115682473 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.922G>T; p.G308W; 1:115682473-115682473 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1384C>T; p.Q462*; 1:115691188-115691188 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1384C>T; p.Q462*; 1:115691188-115691188 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.1379C>T; p.S460F; 1:115691183-115691183 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.556C>T; p.R186C; 1:115664012-115664012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.713T>A; p.I238N; 1:115664169-115664169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.390C>T; p.F130F; 1:115663846-115663846 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.390C>T; p.F130F; 1:115663846-115663846 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.359G>A; p.G120E; 1:115663815-115663815 |
NS | NS | Substitution - Missense |
c.799C>T; p.L267L; 1:115664255-115664255 |
oesophagus | carcinoma | Substitution - coding silent |
c.230C>T; p.T77M; 1:115663686-115663686 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.682G>C; p.D228H; 1:115664138-115664138 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1001G>A; p.R334Q; 1:115683998-115683998 |
breast | carcinoma | Substitution - Missense |
c.1543G>T; p.V515F; 1:115691347-115691347 |
breast | carcinoma | Substitution - Missense |
c.926T>A; p.L309Q; 1:115682477-115682477 |
skin | malignant_melanoma | Substitution - Missense |
c.1493C>A; p.P498Q; 1:115691297-115691297 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1228C>T; p.R410C; 1:115685441-115685441 |
skin | malignant_melanoma | Substitution - Missense |
c.962C>T; p.A321V; 1:115683959-115683959 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1004G>A; p.R335H; 1:115684001-115684001 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1013C>A; p.S338*; 1:115684010-115684010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1426C>T; p.R476W; 1:115691230-115691230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.259A>T; p.I87L; 1:115663715-115663715 |
pancreas | carcinoma | Substitution - Missense |
c.1009G>T; p.D337Y; 1:115684006-115684006 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1007G>T; p.R336M; 1:115684004-115684004 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.496G>T; p.G166W; 1:115663952-115663952 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1030T>C; p.Y344H; 1:115684027-115684027 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.823G>A; p.A275T; 1:115682374-115682374 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.504G>T; p.W168C; 1:115663960-115663960 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.393C>T; p.I131I; 1:115663849-115663849 |
skin | malignant_melanoma | Substitution - coding silent |
c.1266C>A; p.S422R; 1:115685479-115685479 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1039G>T; p.E347*; 1:115684036-115684036 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.76A>T; p.R26*; 1:115659645-115659645 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.921C>A; p.A307A; 1:115682472-115682472 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1179C>T; p.A393A; 1:115685392-115685392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1165G>T; p.D389Y; 1:115685378-115685378 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.634C>T; p.R212W; 1:115664090-115664090 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.72G>A; p.G24G; 1:115659641-115659641 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.634C>T; p.R212W; 1:115664090-115664090 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080G>T; p.R360S; 1:115685293-115685293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.191C>A; p.T64K; 1:115659760-115659760 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1058G>A; p.R353Q; 1:115684055-115684055 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.77G>C; p.R26T; 1:115659646-115659646 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.773C>T; p.T258I; 1:115664229-115664229 |
skin | malignant_melanoma | Substitution - Missense |
c.182C>A; p.S61Y; 1:115659751-115659751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1471G>T; p.V491L; 1:115691275-115691275 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.498G>T; p.G166G; 1:115663954-115663954 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.701A>G; p.H234R; 1:115664157-115664157 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.691C>T; p.L231F; 1:115664147-115664147 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.346G>A; p.A116T; 1:115663802-115663802 |
skin | malignant_melanoma | Substitution - Missense |
c.346G>A; p.A116T; 1:115663802-115663802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.346G>A; p.A116T; 1:115663802-115663802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068G>T; p.K356N; 1:115684065-115684065 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.378C>T; p.T126T; 1:115663834-115663834 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.244A>C; p.T82P; 1:115663700-115663700 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1050T>C; p.H350H; 1:115684047-115684047 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.725A>C; p.E242A; 1:115664181-115664181 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1057C>T; p.R353*; 1:115684054-115684054 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1057C>T; p.R353*; 1:115684054-115684054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.863C>T; p.T288I; 1:115682414-115682414 |
skin | malignant_melanoma | Substitution - Missense |
c.421G>A; p.E141K; 1:115663877-115663877 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1321C>T; p.L441L; 1:115691125-115691125 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.752C>T; p.T251M; 1:115664208-115664208 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.542G>C; p.R181P; 1:115663998-115663998 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1294A>T; p.T432S; 1:115685507-115685507 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.295A>G; p.M99V; 1:115663751-115663751 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.315_316GG>TT; p.D106Y; 1:115663771-115663772 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1549C>T; p.R517C; 1:115691353-115691353 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1237C>T; p.R413W; 1:115685450-115685450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.596C>T; p.S199F; 1:115664052-115664052 |
skin | malignant_melanoma | Substitution - Missense |
c.403C>T; p.P135S; 1:115663859-115663859 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1248C>A; p.N416K; 1:115685461-115685461 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.178G>A; p.D60N; 1:115659747-115659747 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.508_529del22; p.F171fs*93; 1:115663964-115663985 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1194C>T; p.F398F; 1:115685407-115685407 |
skin | malignant_melanoma | Substitution - coding silent |
c.604_605insT; p.Y204fs*88; 1:115664060-115664061 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.178G>T; p.D60Y; 1:115659747-115659747 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.814A>G; p.I272V; 1:115682365-115682365 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.114C>T; p.D38D; 1:115659683-115659683 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.682G>A; p.D228N; 1:115664138-115664138 |
breast | carcinoma | Substitution - Missense |
c.618C>T; p.V206V; 1:115664074-115664074 |
skin | malignant_melanoma | Substitution - coding silent |
c.618C>T; p.V206V; 1:115664074-115664074 |
skin | malignant_melanoma | Substitution - coding silent |
c.524G>A; p.R175Q; 1:115663980-115663980 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1174G>A; p.E392K; 1:115685387-115685387 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.233C>T; p.A78V; 1:115663689-115663689 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.1017C>T; p.S339S; 1:115684014-115684014 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |