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 |
GABRG2 | SNV | Missense_Mutation | | c.1142T>C | p.Val381Ala | p.V381A | P18507 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | | c.512N>T | p.Arg171Ile | p.R171I | P18507 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | | c.797N>A | p.Ser266Tyr | p.S266Y | P18507 | protein_coding | deleterious(0) | possibly_damaging(0.465) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | novel | c.365N>C | p.Tyr122Ser | p.Y122S | P18507 | protein_coding | deleterious(0.03) | possibly_damaging(0.454) | TCGA-AP-A0LS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | rs747649928 | c.103N>T | p.Pro35Ser | p.P35S | P18507 | protein_coding | tolerated_low_confidence(0.22) | benign(0.001) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | novel | c.1225N>G | p.Lys409Glu | p.K409E | P18507 | protein_coding | tolerated(0.12) | benign(0.049) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | rs778814579 | c.407N>A | p.Arg136Gln | p.R136Q | P18507 | protein_coding | tolerated(0.09) | possibly_damaging(0.663) | TCGA-AP-A1DM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | novel | c.871N>T | p.Val291Leu | p.V291L | P18507 | protein_coding | deleterious(0.03) | benign(0.135) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GABRG2 | SNV | Missense_Mutation | novel | c.1228G>T | p.Asp410Tyr | p.D410Y | P18507 | protein_coding | tolerated(0.07) | benign(0.35) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
GABRG2 | SNV | Missense_Mutation | | c.373N>T | p.Arg125Cys | p.R125C | P18507 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A064-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL1521 | ZALEPLON | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | | HALAZEPAM | HALAZEPAM | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | | GSK683699 | | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL1200602 | | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | | RO-229735 | CHEMBL2170369 | 21751815 |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL1200903 | SECOBARBITAL SODIUM | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL526 | PROPOFOL | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | | BROMAZEPAM | BROMAZEPAM | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | positive modulator | CHEMBL738 | THIOPENTAL SODIUM | |
2566 | GABRG2 | DRUGGABLE GENOME, ION CHANNEL | | RO-4882224 | CHEMBL1077391 | 19762240 |