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 |
SCN7A | SNV | Missense_Mutation | rs766963704 | c.4073N>A | p.Arg1358His | p.R1358H | Q01118 | protein_coding | deleterious(0.02) | benign(0.027) | TCGA-A1-A0SG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
SCN7A | SNV | Missense_Mutation | | c.800G>A | p.Cys267Tyr | p.C267Y | Q01118 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
SCN7A | SNV | Missense_Mutation | rs531498308 | c.1322N>T | p.Arg441Met | p.R441M | Q01118 | protein_coding | deleterious(0) | possibly_damaging(0.733) | TCGA-A8-A081-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SCN7A | SNV | Missense_Mutation | novel | c.560T>G | p.Val187Gly | p.V187G | Q01118 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-A8-A083-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SCN7A | SNV | Missense_Mutation | | c.3403N>G | p.Leu1135Val | p.L1135V | Q01118 | protein_coding | deleterious(0) | possibly_damaging(0.487) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SCN7A | SNV | Missense_Mutation | | c.1787N>C | p.Arg596Pro | p.R596P | Q01118 | protein_coding | deleterious(0.01) | benign(0.233) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SCN7A | SNV | Missense_Mutation | | c.4948G>T | p.Asp1650Tyr | p.D1650Y | Q01118 | protein_coding | tolerated(1) | possibly_damaging(0.819) | TCGA-AN-A0AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SCN7A | SNV | Missense_Mutation | | c.1815N>T | p.Lys605Asn | p.K605N | Q01118 | protein_coding | deleterious(0) | possibly_damaging(0.875) | TCGA-AN-A0FK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SCN7A | SNV | Missense_Mutation | novel | c.3223A>T | p.Met1075Leu | p.M1075L | Q01118 | protein_coding | tolerated(0.23) | benign(0) | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SCN7A | SNV | Missense_Mutation | novel | c.442N>C | p.Glu148Gln | p.E148Q | Q01118 | protein_coding | tolerated(0.14) | benign(0.005) | TCGA-AR-A1AP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200819 | ARTICAINE HYDROCHLORIDE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200443 | MERETHOXYLLINE PROCAINE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL918 | PHENACEMIDE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL698 | TETRACAINE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200395 | ORPHENADRINE CITRATE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200597 | ETIDOCAINE HYDROCHLORIDE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL58323 | ERLOSAMIDE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL750 | ZONISAMIDE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200841 | PROCAINE HYDROCHLORIDE | |
6332 | SCN7A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL315985 | ESLICARBAZEPINE | |