| Gene ID | 396 |
| Symbol | ARHGDIA |
| Synonymous | GDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1 |
| Full name | Rho GDP dissociation inhibitor (GDI) alpha |
| Gene description | GDP-dissociation inhibitor, aplysia RAS-related 1|epididymis secretory sperm binding protein Li 47e|rho GDP-dissociation inhibitor 1 |
| Cytoband | 17q25.3 |
| Gene type | protein-coding |
| Synonymous | MIM:601925; HGNC:HGNC:678; Ensembl:ENSG00000141522; HPRD:03565; Vega:OTTHUMG00000178352 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.495_496AC>TT; p.P166S; 17:81868995-81868996 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.505A>T; p.M169L; 17:81868986-81868986 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412A>G; p.K138E; 17:81869176-81869176 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.118G>C; p.E40Q; 17:81869813-81869813 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.371C>T; p.S124F; 17:81869217-81869217 |
skin | malignant_melanoma | Substitution - Missense |
c.381G>A; p.K127K; 17:81869207-81869207 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.407G>A; p.G136D; 17:81869181-81869181 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.207C>T; p.N69N; 17:81869609-81869609 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.39G>A; p.Q13Q; 17:81869892-81869892 |
skin | malignant_melanoma | Substitution - coding silent |
c.253C>T; p.P85S; 17:81869563-81869563 |
skin | malignant_melanoma | Substitution - Missense |
c.600G>T; p.K200N; 17:81868891-81868891 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.477G>C; p.L159L; 17:81869014-81869014 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.406G>T; p.G136C; 17:81869182-81869182 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.199G>A; p.V67I; 17:81869617-81869617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.337A>C; p.K113Q; 17:81869344-81869344 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.352-4G>A; p.?; 17:81869240-81869240 |
prostate | carcinoma | Unknown |
c.587T>G; p.L196R; 17:81868904-81868904 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.514C>T; p.R172W; 17:81868977-81868977 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.21_22delAG; p.A8fs*14; 17:81869909-81869910 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.133G>A; p.D45N; 17:81869798-81869798 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.527delG; p.S176fs*>29; 17:81868964-81868964 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.598A>G; p.K200E; 17:81868893-81868893 |
liver | carcinoma | Substitution - Missense |
c.598A>G; p.K200E; 17:81868893-81868893 |
liver | carcinoma | Substitution - Missense |
c.545C>G; p.T182R; 17:81868946-81868946 |
liver | carcinoma | Substitution - Missense |
c.545C>G; p.T182R; 17:81868946-81868946 |
liver | carcinoma | Substitution - Missense |
c.89delC; p.P30fs*43; 17:81869842-81869842 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.340A>G; p.I114V; 17:81869341-81869341 |
liver | carcinoma | Substitution - Missense |
c.340A>G; p.I114V; 17:81869341-81869341 |
liver | carcinoma | Substitution - Missense |
c.265G>A; p.D89N; 17:81869551-81869551 |
breast | carcinoma | Substitution - Missense |
c.409G>A; p.V137I; 17:81869179-81869179 |
thyroid | other; neoplasm | Substitution - Missense |
c.357C>T; p.N119N; 17:81869231-81869231 |
skin | malignant_melanoma | Substitution - coding silent |
c.395C>T; p.T132M; 17:81869193-81869193 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.89C>A; p.P30Q; 17:81869842-81869842 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.468C>T; p.Y156Y; 17:81869023-81869023 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.597G>A; p.K199K; 17:81868894-81868894 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.48G>T; p.A16A; 17:81869883-81869883 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - coding silent |