| Gene ID | 1382 |
| Symbol | CRABP2 |
| Synonymous | CRABP-II|RBP6 |
| Full name | cellular retinoic acid binding protein 2 |
| Gene description | cellular retinoic acid-binding protein 2|cellular retinoic acid-binding protein II |
| Cytoband | 1q21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:180231; HGNC:HGNC:2339; Ensembl:ENSG00000143320; HPRD:08353; Vega:OTTHUMG00000041300 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.175G>C; p.V59L; 1:156700948-156700948 |
skin | malignant_melanoma | Substitution - Missense |
c.47T>C; p.F16S; 1:156705400-156705400 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.35G>A; p.R12Q; 1:156705412-156705412 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326C>T; p.S109L; 1:156700582-156700582 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.378G>A; p.A126A; 1:156700065-156700065 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.173C>T; p.T58I; 1:156700950-156700950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.27A>G; p.K9K; 1:156705420-156705420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.179G>A; p.R60H; 1:156700944-156700944 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.179G>A; p.R60H; 1:156700944-156700944 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.287G>A; p.C96Y; 1:156700621-156700621 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.178C>T; p.R60C; 1:156700945-156700945 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.178C>T; p.R60C; 1:156700945-156700945 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.178C>T; p.R60C; 1:156700945-156700945 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.347A>G; p.N116S; 1:156700561-156700561 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.58C>T; p.L20F; 1:156705389-156705389 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>C; p.E138Q; 1:156700031-156700031 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.369C>T; p.T123T; 1:156700074-156700074 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.34C>T; p.R12*; 1:156705413-156705413 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.54A>T; p.E18D; 1:156705393-156705393 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.300_301CC>TT; p.(=); 1:156700607-156700608 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.25A>G; p.K9E; 1:156705422-156705422 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.98C>A; p.A33D; 1:156701025-156701025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.98C>A; p.A33D; 1:156701025-156701025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.243C>A; p.P81P; 1:156700880-156700880 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.223C>T; p.Q75*; 1:156700900-156700900 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.252C>T; p.S84S; 1:156700656-156700656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.285C>T; p.V95V; 1:156700623-156700623 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.223C>A; p.Q75K; 1:156700900-156700900 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.223C>A; p.Q75K; 1:156700900-156700900 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.310G>T; p.E104*; 1:156700598-156700598 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.254T>C; p.L85P; 1:156700654-156700654 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.51G>T; p.E17D; 1:156705396-156705396 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.355G>A; p.E119K; 1:156700553-156700553 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |