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 |
GABBR2 | SNV | Missense_Mutation | | c.1450A>C | p.Ile484Leu | p.I484L | O75899 | protein_coding | tolerated(0.14) | benign(0.015) | TCGA-A7-A0CG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GABBR2 | SNV | Missense_Mutation | | c.901N>T | p.Arg301Cys | p.R301C | O75899 | protein_coding | deleterious(0.04) | benign(0.347) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
GABBR2 | SNV | Missense_Mutation | | c.2804N>C | p.Arg935Pro | p.R935P | O75899 | protein_coding | deleterious_low_confidence(0.05) | benign(0.423) | TCGA-A8-A09I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
GABBR2 | SNV | Missense_Mutation | | c.1424N>T | p.Arg475Leu | p.R475L | O75899 | protein_coding | tolerated(0.18) | probably_damaging(0.982) | TCGA-B6-A0I1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GABBR2 | SNV | Missense_Mutation | | c.2365G>C | p.Glu789Gln | p.E789Q | O75899 | protein_coding | tolerated(0.24) | benign(0.259) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GABBR2 | SNV | Missense_Mutation | novel | c.1190G>A | p.Arg397Lys | p.R397K | O75899 | protein_coding | tolerated(1) | benign(0) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
GABBR2 | insertion | Nonsense_Mutation | novel | c.1385_1386insTTGAGGCACCTAAGTAGTTCACGGTTTACAAAAGGACCTCCAAGGAC | p.Glu462AspfsTer2 | p.E462Dfs*2 | O75899 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GABBR2 | insertion | Frame_Shift_Ins | novel | c.2265_2266insAGGACGGGTGAAGGGGTGTGGAGCTTCCCTGCCT | p.Gln756ArgfsTer28 | p.Q756Rfs*28 | O75899 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
GABBR2 | SNV | Missense_Mutation | novel | c.2553N>T | p.Lys851Asn | p.K851N | O75899 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.966) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GABBR2 | SNV | Missense_Mutation | | c.2461N>C | p.Glu821Gln | p.E821Q | O75899 | protein_coding | deleterious(0.04) | probably_damaging(0.986) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | | ARBACLOFEN | ARBACLOFEN | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | | R-BACLOFEN | | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | agonist | CHEMBL448343 | LESOGABERAN | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | | GAMMA HYDROXYBUTYRIC ACID | | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | agonist | CHEMBL301742 | ARBACLOFEN | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | agonist | CHEMBL2107312 | ARBACLOFEN PLACARBIL | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | agonist | CHEMBL1200682 | SODIUM OXYBATE | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | | BACLOFEN | BACLOFEN | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | | BACLOFEN | BACLOFEN | |
9568 | GABBR2 | G PROTEIN COUPLED RECEPTOR, DRUGGABLE GENOME, ION CHANNEL | agonist | CHEMBL701 | BACLOFEN | |