| Gene ID | 54739 |
| Symbol | XAF1 |
| Synonymous | BIRC4BP|HSXIAPAF1|XIAPAF1 |
| Full name | XIAP associated factor 1 |
| Gene description | BIRC4 binding protein|BIRC4-binding protein|XIAP-associated factor 1 |
| Cytoband | 17p13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:606717; HGNC:HGNC:30932; Ensembl:ENSG00000132530; HPRD:06978; Vega:OTTHUMG00000177908 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.291G>A; p.K97K; 17:6760471-6760471 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.203A>G; p.K68R; 17:6759696-6759696 |
skin | malignant_melanoma | Substitution - Missense |
c.559C>G; p.P187A; 17:6770694-6770694 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.767G>A; p.G256E; 17:6770902-6770902 |
oesophagus | carcinoma | Substitution - Missense |
c.830C>T; p.P277L; 17:6770965-6770965 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.176G>A; p.C59Y; 17:6759669-6759669 |
ovary | other; neoplasm | Substitution - Missense |
c.631C>T; p.R211C; 17:6770766-6770766 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.893G>C; p.R298T; 17:6773156-6773156 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.404A>G; p.Q135R; 17:6760584-6760584 |
skin | malignant_melanoma | Substitution - Missense |
c.373G>A; p.A125T; 17:6760553-6760553 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.373G>A; p.A125T; 17:6760553-6760553 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.76T>C; p.Y26H; 17:6758132-6758132 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4G>A; p.E2K; 17:6756082-6756082 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.225+1G>T; p.?; 17:6759719-6759719 |
soft_tissue; blood_vessel | angiosarcoma | Unknown |
c.804T>C; p.S268S; 17:6770939-6770939 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.50C>A; p.S17Y; 17:6758106-6758106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.484G>T; p.E162*; 17:6762217-6762217 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.244C>T; p.R82C; 17:6760424-6760424 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.244C>T; p.R82C; 17:6760424-6760424 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.244C>T; p.R82C; 17:6760424-6760424 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.244C>T; p.R82C; 17:6760424-6760424 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.81C>T; p.C27C; 17:6758137-6758137 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.516T>C; p.C172C; 17:6770651-6770651 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.309C>T; p.S103S; 17:6760489-6760489 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.785A>T; p.D262V; 17:6770920-6770920 |
central_nervous_system; midbrain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.859C>T; p.R287W; 17:6773122-6773122 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.859C>T; p.R287W; 17:6773122-6773122 |
breast | carcinoma | Substitution - Missense |
c.395G>A; p.R132H; 17:6760575-6760575 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.396C>G; p.R132R; 17:6760576-6760576 |
thyroid | other; neoplasm | Substitution - coding silent |
c.214G>C; p.E72Q; 17:6759707-6759707 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.166C>A; p.Q56K; 17:6758222-6758222 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.166C>A; p.Q56K; 17:6758222-6758222 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.560C>T; p.P187L; 17:6770695-6770695 |
skin | malignant_melanoma | Substitution - Missense |
c.651A>T; p.I217I; 17:6770786-6770786 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.48C>T; p.V16V; 17:6758104-6758104 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.691G>A; p.A231T; 17:6770826-6770826 |
skin | malignant_melanoma | Substitution - Missense |
c.394C>T; p.R132C; 17:6760574-6760574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.564A>T; p.E188D; 17:6770699-6770699 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.633T>C; p.R211R; 17:6770768-6770768 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.209C>T; p.S70L; 17:6759702-6759702 |
skin | malignant_melanoma | Substitution - Missense |
c.28A>T; p.N10Y; 17:6756106-6756106 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.335G>A; p.C112Y; 17:6760515-6760515 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.335G>A; p.C112Y; 17:6760515-6760515 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |