| Gene ID | 10406 |
| Symbol | WFDC2 |
| Synonymous | EDDM4|HE4|WAP5|dJ461P17.6 |
| Full name | WAP four-disulfide core domain 2 |
| Gene description | WAP domain containing protein HE4-V4|WAP four-disulfide core domain protein 2|epididymal protein 4|epididymal secretory protein E4|epididymis-specific, whey-acidic protein type, four-disulfide core|major epididymis-specific protein E4|putative protease in |
| Cytoband | 20q13.12 |
| Gene type | protein-coding |
| Synonymous | HGNC:HGNC:15939; Ensembl:ENSG00000101443; HPRD:11684; Vega:OTTHUMG00000032594 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.365C>T; p.P122L; 20:45480083-45480083 |
skin | malignant_melanoma | Substitution - Missense |
c.23C>T; p.P8L; 20:45469804-45469804 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7G>A; p.A3T; 20:45469788-45469788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.37C>A; p.L13I; 20:45469818-45469818 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.224-1G>C; p.?; 20:45479941-45479941 |
liver | carcinoma | Unknown |
c.14G>A; p.R5H; 20:45469795-45469795 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.14G>A; p.R5H; 20:45469795-45469795 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.224-1G>C; p.?; 20:45479941-45479941 |
liver | carcinoma | Unknown |
c.293A>G; p.Q98R; 20:45480011-45480011 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.310C>T; p.P104S; 20:45480028-45480028 |
skin | malignant_melanoma | Substitution - Missense |
c.3G>A; p.M1I; 20:45469784-45469784 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.265C>G; p.Q89E; 20:45479983-45479983 |
breast | carcinoma | Substitution - Missense |
c.157A>T; p.S53C; 20:45470466-45470466 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.364C>T; p.P122S; 20:45480082-45480082 |
skin | malignant_melanoma | Substitution - Missense |
c.253A>G; p.I85V; 20:45479971-45479971 |
breast | carcinoma | Substitution - Missense |
c.284A>T; p.D95V; 20:45480002-45480002 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.270C>T; p.L90L; 20:45479988-45479988 |
breast | carcinoma | Substitution - coding silent |
c.308G>A; p.C103Y; 20:45480026-45480026 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.93G>A; p.E31E; 20:45470402-45470402 |
skin | malignant_melanoma | Substitution - coding silent |
c.169G>T; p.D57Y; 20:45470478-45470478 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.40C>T; p.L14F; 20:45469821-45469821 |
skin | malignant_melanoma | Substitution - Missense |