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 |
CHRNA5 | SNV | Missense_Mutation | | c.464N>G | p.Asn155Ser | p.N155S | P30532 | protein_coding | tolerated(0.11) | benign(0.174) | TCGA-A2-A0T1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | herceptin | SD |
CHRNA5 | SNV | Missense_Mutation | novel | c.264N>C | p.Glu88Asp | p.E88D | P30532 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CHRNA5 | SNV | Missense_Mutation | | c.456C>G | p.Ile152Met | p.I152M | P30532 | protein_coding | deleterious(0.02) | benign(0.143) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CHRNA5 | SNV | Missense_Mutation | novel | c.330G>T | p.Trp110Cys | p.W110C | P30532 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHRNA5 | SNV | Missense_Mutation | | c.761C>A | p.Thr254Asn | p.T254N | P30532 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-BH-A1F0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CHRNA5 | SNV | Missense_Mutation | | c.1180N>C | p.Glu394Gln | p.E394Q | P30532 | protein_coding | tolerated(0.28) | benign(0.038) | TCGA-C5-A7CH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unspecific | | SD |
CHRNA5 | SNV | Missense_Mutation | | c.627N>C | p.Lys209Asn | p.K209N | P30532 | protein_coding | tolerated(0.11) | possibly_damaging(0.872) | TCGA-DS-A0VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CHRNA5 | SNV | Missense_Mutation | novel | c.1224N>A | p.Met408Ile | p.M408I | P30532 | protein_coding | deleterious(0.01) | benign(0.033) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
CHRNA5 | SNV | Missense_Mutation | novel | c.820N>T | p.Leu274Phe | p.L274F | P30532 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHRNA5 | SNV | Missense_Mutation | rs775819304 | c.743N>A | p.Arg248His | p.R248H | P30532 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | partial agonist | CHEMBL127071 | POZANICLINE | |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | antagonist | 178100835 | | |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | | ethanol | ALCOHOL | |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | | Drugs used in nicotine dependence | | 25950378 |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | | Opium alkaloids and derivatives | | 20725741 |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | antagonist | 178100837 | | |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | | cocaine | COCAINE | 32152934 |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | antagonist | 178100808 | | |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | | cotinine | COTININE | |
1138 | CHRNA5 | DRUGGABLE GENOME, ION CHANNEL | antagonist | 178100796 | | |