Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
GABBR1 | SNV | Missense_Mutation | | c.1478N>A | p.Val493Glu | p.V493E | Q9UBS5 | protein_coding | tolerated(0.38) | benign(0.053) | TCGA-A8-A08P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
GABBR1 | SNV | Missense_Mutation | rs755252386 | c.406N>T | p.His136Tyr | p.H136Y | Q9UBS5 | protein_coding | tolerated_low_confidence(1) | benign(0.15) | TCGA-E9-A3X8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphane | CR |
GABBR1 | SNV | Missense_Mutation | | c.1091N>A | p.Gly364Glu | p.G364E | Q9UBS5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
GABBR1 | SNV | Missense_Mutation | | c.123C>G | p.Ile41Met | p.I41M | Q9UBS5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-C5-A1BM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
GABBR1 | SNV | Missense_Mutation | | c.806N>G | p.Ser269Cys | p.S269C | Q9UBS5 | protein_coding | deleterious(0.02) | probably_damaging(0.951) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
GABBR1 | SNV | Missense_Mutation | rs767733339 | c.2206N>T | p.Arg736Trp | p.R736W | Q9UBS5 | protein_coding | deleterious(0) | probably_damaging(0.94) | TCGA-C5-A7CL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
GABBR1 | SNV | Missense_Mutation | | c.1787N>T | p.Ser596Leu | p.S596L | Q9UBS5 | protein_coding | deleterious(0.03) | probably_damaging(0.994) | TCGA-EX-A1H6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GABBR1 | SNV | Missense_Mutation | novel | c.1018N>T | p.Arg340Cys | p.R340C | Q9UBS5 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-MY-A913-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GABBR1 | SNV | Missense_Mutation | novel | c.957N>G | p.Phe319Leu | p.F319L | Q9UBS5 | protein_coding | deleterious(0.03) | possibly_damaging(0.651) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
GABBR1 | SNV | Missense_Mutation | novel | c.1253N>T | p.Ala418Val | p.A418V | Q9UBS5 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-VS-A9V4-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | R-BACLOFEN | | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | BACLOFEN | BACLOFEN | 7674378,9486305 |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | agonist | CHEMBL2107312 | ARBACLOFEN PLACARBIL | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | VIGABATRIN | VIGABATRIN | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | PROGABIDE | PROGABIDE | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | ARBACLOFEN | ARBACLOFEN | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | agonist | 223366038 | LESOGABERAN | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | BACLOFEN | BACLOFEN | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | agonist | 135650071 | | |
2550 | GABBR1 | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | agonist | CHEMBL1200682 | SODIUM OXYBATE | |