| Gene ID | 8692 |
| Symbol | HYAL2 |
| Synonymous | LUCA2 |
| Full name | hyaluronoglucosaminidase 2 |
| Gene description | PH-20 homolog|PH20 homolog|hyal-2|hyaluronidase 2|hyaluronidase-2|hyaluronoglucosaminidase-2|lung carcinoma protein 2|lysosomal hyaluronidase |
| Cytoband | 3p21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:603551; HGNC:HGNC:5321; Ensembl:ENSG00000068001; HPRD:04649; Vega:OTTHUMG00000156876 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.135_136GG>AA; p.D46N; 3:50320354-50320355 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.986delG; p.G329fs*19; 3:50318981-50318981 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1184G>A; p.R395H; 3:50318367-50318367 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.244C>T; p.R82C; 3:50320246-50320246 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.441C>T; p.D147D; 3:50320049-50320049 |
prostate | carcinoma | Substitution - coding silent |
c.1351G>A; p.E451K; 3:50318200-50318200 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1259A>G; p.H420R; 3:50318292-50318292 |
liver | carcinoma | Substitution - Missense |
c.1259A>G; p.H420R; 3:50318292-50318292 |
liver | carcinoma | Substitution - Missense |
c.255G>C; p.L85L; 3:50320235-50320235 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.851C>G; p.A284G; 3:50319639-50319639 |
breast | carcinoma | Substitution - Missense |
c.46_47insG; p.A16fs*46; 3:50320443-50320444 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.1216_1217insC; p.Q406fs*14; 3:50318334-50318335 |
liver | carcinoma | Insertion - Frameshift |
c.574C>T; p.R192C; 3:50319916-50319916 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169G>A; p.S390N; 3:50318382-50318382 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.593G>T; p.R198L; 3:50319897-50319897 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.268G>A; p.D90N; 3:50320222-50320222 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.428G>A; p.R143H; 3:50320062-50320062 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.543C>T; p.F181F; 3:50319947-50319947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1039C>T; p.L347L; 3:50318512-50318512 |
skin | malignant_melanoma | Substitution - coding silent |
c.1349G>T; p.S450I; 3:50318202-50318202 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.388G>A; p.A130T; 3:50320102-50320102 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.171G>C; p.L57L; 3:50320319-50320319 |
breast | carcinoma | Substitution - coding silent |
c.979C>T; p.L327F; 3:50318988-50318988 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.59C>T; p.A20V; 3:50320431-50320431 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.281G>C; p.R94T; 3:50320209-50320209 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.953C>T; p.A318V; 3:50319014-50319014 |
ovary | other; neoplasm | Substitution - Missense |
c.953C>T; p.A318V; 3:50319014-50319014 |
ovary | other; neoplasm | Substitution - Missense |
c.708C>T; p.D236D; 3:50319782-50319782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.192C>G; p.A64A; 3:50320298-50320298 |
kidney | other; neoplasm | Substitution - coding silent |
c.909G>T; p.T303T; 3:50319581-50319581 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909G>T; p.T303T; 3:50319581-50319581 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909G>T; p.T303T; 3:50319581-50319581 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.255G>A; p.L85L; 3:50320235-50320235 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1000A>G; p.T334A; 3:50318967-50318967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.267C>T; p.F89F; 3:50320223-50320223 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.738G>A; p.T246T; 3:50319752-50319752 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.267C>T; p.F89F; 3:50320223-50320223 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.267C>T; p.F89F; 3:50320223-50320223 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1252A>C; p.I418L; 3:50318299-50318299 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.961G>A; p.G321S; 3:50319006-50319006 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.573G>A; p.L191L; 3:50319917-50319917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.454C>T; p.R152C; 3:50320036-50320036 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.48G>T; p.A16A; 3:50320442-50320442 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1264C>T; p.Q422*; 3:50318287-50318287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1362T>C; p.A454A; 3:50318189-50318189 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.685G>A; p.D229N; 3:50319805-50319805 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1233G>A; p.G411G; 3:50318318-50318318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1046G>A; p.R349Q; 3:50318505-50318505 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.406G>T; p.D136Y; 3:50320084-50320084 |
breast | carcinoma | Substitution - Missense |
c.321G>A; p.W107*; 3:50320169-50320169 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.52T>G; p.S18A; 3:50320438-50320438 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.52T>G; p.S18A; 3:50320438-50320438 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.52T>G; p.S18A; 3:50320438-50320438 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.52T>G; p.S18A; 3:50320438-50320438 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.52T>G; p.S18A; 3:50320438-50320438 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.52T>G; p.S18A; 3:50320438-50320438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.52T>G; p.S18A; 3:50320438-50320438 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1153A>G; p.T385A; 3:50318398-50318398 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1058C>T; p.P353L; 3:50318493-50318493 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1394C>T; p.A465V; 3:50318157-50318157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1158C>T; p.F386F; 3:50318393-50318393 |
skin | malignant_melanoma | Substitution - coding silent |
c.346C>T; p.R116C; 3:50320144-50320144 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1272C>A; p.H424Q; 3:50318279-50318279 |
ovary | other; neoplasm | Substitution - Missense |
c.665G>T; p.S222I; 3:50319825-50319825 |
breast | carcinoma | Substitution - Missense |
c.600G>A; p.R200R; 3:50319890-50319890 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.600G>A; p.R200R; 3:50319890-50319890 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.829C>T; p.R277C; 3:50319661-50319661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.330G>A; p.R110R; 3:50320160-50320160 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.796A>G; p.N266D; 3:50319694-50319694 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010C>T; p.T337M; 3:50318957-50318957 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.748C>T; p.P250S; 3:50319742-50319742 |
skin | malignant_melanoma | Substitution - Missense |
c.1132C>T; p.R378C; 3:50318419-50318419 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1304G>A; p.G435D; 3:50318247-50318247 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.464C>A; p.S155*; 3:50320026-50320026 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.785G>A; p.R262H; 3:50319705-50319705 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |