| Gene ID | 6431 |
| Symbol | SRSF6 |
| Synonymous | B52|HEL-S-91|SFRS6|SRP55 |
| Full name | serine/arginine-rich splicing factor 6 |
| Gene description | SR splicing factor 6|epididymis secretory protein Li 91|pre-mRNA-splicing factor SRP55|splicing factor, arginine/serine-rich, 55 kDa |
| Cytoband | 20q12-q13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:601944; HGNC:HGNC:10788; Ensembl:ENSG00000124193; HPRD:09054; Vega:OTTHUMG00000032502 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.706T>C; p.S236P; 20:43460734-43460734 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.434G>A; p.R145Q; 20:43460085-43460085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.962G>A; p.R321K; 20:43460990-43460990 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1-1C>T; p.?; 20:43458033-43458033 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.367T>A; p.W123R; 20:43459881-43459881 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |