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 |
POLA1 | SNV | Missense_Mutation | novel | c.3740N>A | p.Leu1247His | p.L1247H | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A2IN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
POLA1 | SNV | Missense_Mutation | novel | c.3602N>A | p.Pro1201His | p.P1201H | | protein_coding | deleterious(0.01) | possibly_damaging(0.852) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POLA1 | SNV | Missense_Mutation | novel | c.3181N>C | p.Tyr1061His | p.Y1061H | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B5-A0JU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POLA1 | SNV | Missense_Mutation | novel | c.1967N>T | p.Arg656Ile | p.R656I | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
POLA1 | SNV | Missense_Mutation | | c.3851N>T | p.Arg1284Ile | p.R1284I | | protein_coding | deleterious(0.03) | benign(0.278) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
POLA1 | SNV | Missense_Mutation | novel | c.474N>A | p.Asp158Glu | p.D158E | | protein_coding | deleterious(0.03) | possibly_damaging(0.718) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POLA1 | SNV | Missense_Mutation | | c.1329N>T | p.Lys443Asn | p.K443N | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
POLA1 | SNV | Missense_Mutation | novel | c.2188N>A | p.Pro730Thr | p.P730T | | protein_coding | deleterious(0.04) | benign(0.017) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
POLA1 | SNV | Missense_Mutation | novel | c.38N>T | p.Ala13Val | p.A13V | | protein_coding | tolerated_low_confidence(0.32) | benign(0.018) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
POLA1 | SNV | Missense_Mutation | novel | c.1848G>T | p.Glu616Asp | p.E616D | | protein_coding | tolerated(0.18) | benign(0.055) | TCGA-B5-A3FA-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 |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | | BROMOVINYL DEOXYURIDINE | | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | | FLUDARABINE | FLUDARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | | CLOFARABINE | CLOFARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | | CLOFARABINE | CLOFARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | | DIGALLIC ACID | DIGALLIC ACID | 1705574 |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | | NELARABINE | NELARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | | FLUDARABINE | FLUDARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL803 | CYTARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1750 | CLOFARABINE | |
5422 | POLA1 | DNA DIRECTED RNA POLYMERASE, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1096882 | FLUDARABINE PHOSPHATE | |