chr3:14186647:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:14,186,647-14,220,101 |
| hg38 | chr3:14,145,147-14,178,601 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | renal cell carcinoma | NA | GAD | Detail | |
| 0.008 | squamous cell carcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Carcinoma, Transitional Cell | NA | BeFree,GAD | Detail | |
| 0.002 | Neoplastic Cell Transformation | NA | GAD | Detail | |
| 0.002 | Uterine Cervical Neoplasm | NA | GAD | Detail | |
| <0.001 | cholelithiasis | NA | BeFree | Detail | |
| 0.127 | Chromosome Aberrations | NA | CTD_human,GAD | Detail | |
| 0.084 | Carcinoma of lung | Furthermore, a significant effect of SNPs in nucleotide excision repair pathway ... | BeFree | 21739480 | Detail |
| 0.002 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.044 | Malignant neoplasm of lung | Furthermore, a significant effect of SNPs in nucleotide excision repair pathway ... | BeFree | 21739480 | Detail |
| 0.002 | Cocarcinogenesis | NA | GAD | Detail | |
| <0.001 | Cockayne syndrome | NA | BeFree | Detail | |
| 0.007 | Colorectal Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.002 | Deafness | NA | GAD | Detail | |
| 0.009 | DNA Damage | NA | GAD | Detail | |
| 0.003 | Esophageal Neoplasms | NA | BeFree,GAD | Detail | |
| 0.003 | glioblastoma | NA | LHGDN | Detail | |
| 0.002 | Glioma | NA | GAD | Detail | |
| 0.005 | Head and Neck Neoplasms | NA | GAD | Detail | |
| 0.002 | Hearing Loss, Partial | NA | GAD | Detail | |
| <0.001 | Hemangiosarcoma | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| 0.023 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.002 | hepatitis B | NA | GAD | Detail | |
| 0.002 | hepatitis C | NA | GAD | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.002 | Hodgkin Disease | NA | GAD | Detail | |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| 0.002 | male infertility | NA | GAD | Detail | |
| <0.001 | keratoacanthoma | NA | BeFree | Detail | |
| <0.001 | actinic keratosis | NA | BeFree | Detail | |
| 0.005 | Kidney Neoplasm | NA | GAD | Detail | |
| 0.005 | Laryngeal neoplasm | NA | GAD | Detail | |
| 0.044 | Malignant neoplasm of lung | We investigated the relationship between polymorphisms in two NER genes, XPC (po... | BeFree | 17705814 | Detail |
| 0.084 | Carcinoma of lung | We investigated the relationship between polymorphisms in two NER genes, XPC (po... | BeFree | 17705814 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... | BeFree | 16373199 | Detail |
| 0.002 | Congenital chromosomal disease | We analysed the associations between genetic polymorphisms in genes coding for D... | BeFree | 14729591 | Detail |
| 0.002 | chronic lymphocytic leukemia | NA | GAD | Detail | |
| 0.003 | Leukemia, Myelocytic, Acute | NA | BeFree,GAD | Detail | |
| 0.003 | Leukemia, Myeloid, Chronic-Phase | NA | BeFree,GAD | Detail | |
| <0.001 | leukopenia | With respect to hematological and nonhematological toxicities, SNPs in drug tran... | BeFree | 25340731 | Detail |
| 0.008 | Liver neoplasms | NA | BeFree,GAD | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.134 | Lung Neoplasms | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.014 | melanoma | NA | BeFree,GAD | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.002 | meningioma | NA | GAD | Detail | |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| 0.002 | Nasopharyngeal Neoplasms | NA | GAD | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.002 | acoustic neuroma | NA | GAD | Detail | |
| <0.001 | neutropenia | With respect to hematological and nonhematological toxicities, SNPs in drug tran... | BeFree | 25340731 | Detail |
| 0.006 | Malignant neoplasm of prostate | This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... | BeFree | 17196815 | Detail |
| 0.002 | prostate carcinoma | This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... | BeFree | 17196815 | Detail |
| 0.003 | oligospermia | NA | BeFree,GAD | Detail | |
| 0.003 | osteosarcoma | NA | BeFree,GAD | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.005 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.006 | Paroxysmal atrial tachycardia | NA | BeFree | Detail | |
| 0.005 | Skin Neoplasms | NA | BeFree,GAD | Detail | |
| 0.006 | Carcinoma of bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.032 | Malignant neoplasm of urinary bladder | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | We examined the associations between bladder cancer and 7 polymorphisms from 5 g... | BeFree | 22927776 | Detail |
| 0.007 | Stomach Neoplasms | NA | GAD | Detail | |
| 0.002 | Ureteral Neoplasms | NA | GAD | Detail | |
| <0.001 | Xeroderma | NA | BeFree | Detail | |
| 0.021 | xeroderma pigmentosum | We, particularly, developed the correction of XP-C skin cells using the fidelity... | BeFree,LHGDN | 26255934 | Detail |
| 0.002 | Helicobacter Infections | NA | GAD | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| <0.001 | Sensory neuropathy | With respect to hematological and nonhematological toxicities, SNPs in drug tran... | BeFree | 25340731 | Detail |
| <0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
| 0.121 | Adenocarcinoma of lung (disorder) | NA | BeFree,CTD_human | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of mouth | NA | GAD | Detail | |
| 0.569 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | Several polymorphisms (Lys(939)Gln, PAT+/- and Ala(499)Val) in the DNA nuclear e... | BeFree | 18771913 | Detail |
| 0.003 | adenoma | Smoking was related to adenoma risk and XPC polymorphisms (R492H, A499V, K939Q) ... | BeFree | 16492920 | Detail |
| 0.003 | colorectal carcinoma | Individuals with variant genotypes of XPC Ala499Val appeared to be associated wi... | BeFree | 25355595 | Detail |
| 0.007 | colorectal cancer | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a... | BeFree | 24385304 | Detail |
| 0.003 | colorectal carcinoma | XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a... | BeFree | 24385304 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | Numerous studies have investigated the association between three polymorphisms (... | BeFree | 23918308 | Detail |
| 0.032 | Malignant neoplasm of urinary bladder | Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val... | BeFree | 21689419 | Detail |
| 0.007 | colorectal cancer | Individuals with variant genotypes of XPC Ala499Val appeared to be associated wi... | BeFree | 25355595 | Detail |
| <0.001 | gallbladder adenocarcinoma | Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their c... | BeFree | 21113018 | Detail |
| <0.001 | Malignant neoplasm of nasopharynx | NA | BeFree | Detail | |
| 0.006 | Carcinoma of bladder | Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val... | BeFree | 21689419 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | This meta-analysis including 13 case-control studies evaluated the associations ... | BeFree | 23381646 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | This meta-analysis shows that the XPC PAT and Ala499Val polymorphisms may be ass... | BeFree | 24338715 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | The overall genotype and allelotype distributions of XPC intron 9 PAT(+/-) and e... | BeFree | 17653764 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Coronavirus Infections | NA | BeFree | Detail | |
| <0.001 | Neurologic Symptoms | NA | BeFree | Detail | |
| <0.001 | gallbladder carcinoma | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Cancer of Nasopharynx | NA | BeFree | Detail | |
| 0.044 | Malignant neoplasm of lung | We found a significantly increased risk of lung cancer development in XPD genoty... | BeFree,GAD | 25300687 | Detail |
| <0.001 | Xeroderma pigmentosum, group A | NA | BeFree | Detail | |
| <0.001 | Spastic syndrome | Expression of specific TALE nuclease in the presence of a repair matrix containi... | BeFree | 26255934 | Detail |
| 0.005 | Cancer of Head and Neck | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma Of Esophagus | NA | BeFree | Detail | |
| <0.001 | gallbladder adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of oropharynx | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of pancreas | NA | BeFree,GAD | Detail | |
| 0.006 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| 0.003 | endometrial carcinoma | NA | BeFree,GAD | Detail | |
| 0.005 | Malignant neoplasm of esophagus | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of skin | We report that regional disparities in mutation density are virtually abolished ... | BeFree | 25456125 | Detail |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| 0.002 | Carcinogenesis | NA | BeFree | Detail | |
| 0.002 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | NA | BeFree | Detail | |
| 0.084 | Carcinoma of lung | We found a significantly increased risk of lung cancer development in XPD genoty... | BeFree,MGD | 25300687 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.006 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.003 | skin carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | Cockayne Syndrome, Type II | Surprisingly, DSB formation requires the transcription-coupled nucleotide excisi... | BeFree | 25435140 | Detail |
| <0.001 | cholecystolithiasis | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | Adenoma of large intestine | NA | BeFree | Detail | |
| <0.001 | gastric cardia adenocarcinoma | NA | BeFree | Detail | |
| 0.002 | hearing impairment | NA | GAD | Detail | |
| 0.120 | Micronuclei, Chromosome-Defective | NA | CTD_human | Detail | |
| 0.002 | Mammary Neoplasms | NA | GAD | Detail | |
| <0.001 | Skin Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| <0.001 | Trichothiodystrophy Syndromes | NA | BeFree | Detail | |
| 0.008 | liver carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| 0.002 | Congenital chromosomal disease | Our study is focused on the extent of any such chromosomal aberrations with resp... | BeFree | 21858514 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1... | BeFree | 25023197 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | When considering sex and SNPs, men with the A-allele in XPC intron 11 C/A have b... | BeFree | 25209577 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | Xeroderma pigmentosum complementation group C protein (XPC) expression in basal ... | BeFree | 25600527 | Detail |
| 0.002 | Hearing Loss | NA | GAD | Detail | |
| 0.018 | adenocarcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | adenoma | NA | BeFree,LHGDN | Detail | |
| 0.002 | Alcoholic Intoxication, Chronic | NA | GAD | Detail | |
| 0.120 | Amino Acid Metabolism, Inborn Errors | NA | CTD_human | Detail | |
| 0.120 | autistic disorder | NA | CTD_human | Detail | |
| 0.003 | azoospermia | NA | BeFree,GAD | Detail | |
| 0.032 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.009 | Bladder Neoplasm | NA | BeFree,LHGDN | Detail | |
| 0.002 | Bone neoplasms | NA | GAD | Detail | |
| 0.002 | Brain Neoplasms | NA | GAD | Detail | |
| 0.023 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.002 | Breast Diseases | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of larynx | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of skin | Individuals carrying a mutation in XPC genes exhibit marked photosensitivity and... | BeFree | 25600527 | Detail |
| 0.003 | Non-small cell lung carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | Small cell carcinoma of esophagus | We retrospectively examined whether there was an association between the selecte... | BeFree | 25374063 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... | DisGeNET | Detail |
| We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/de... | DisGeNET | Detail |
| Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... | DisGeNET | Detail |
| We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XP... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| With respect to hematological and nonhematological toxicities, SNPs in drug transporters (ABCB1 and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| With respect to hematological and nonhematological toxicities, SNPs in drug transporters (ABCB1 and ... | DisGeNET | Detail |
| This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... | DisGeNET | Detail |
| This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We, particularly, developed the correction of XP-C skin cells using the fidelity of the homologous r... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| With respect to hematological and nonhematological toxicities, SNPs in drug transporters (ABCB1 and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Several polymorphisms (Lys(939)Gln, PAT+/- and Ala(499)Val) in the DNA nuclear excision repair gene ... | DisGeNET | Detail |
| Smoking was related to adenoma risk and XPC polymorphisms (R492H, A499V, K939Q) modified these effec... | DisGeNET | Detail |
| Individuals with variant genotypes of XPC Ala499Val appeared to be associated with the increased ris... | DisGeNET | Detail |
| XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of ca... | DisGeNET | Detail |
| XPC Lys939Gln and Ala499Val polymorphisms in colorectal cancer susceptibility: a meta-analysis of ca... | DisGeNET | Detail |
| Numerous studies have investigated the association between three polymorphisms (Lys939Gln, Ala499Val... | DisGeNET | Detail |
| Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val) were shown in a la... | DisGeNET | Detail |
| Individuals with variant genotypes of XPC Ala499Val appeared to be associated with the increased ris... | DisGeNET | Detail |
| Ala499Val (C>T) and Lys939Gln (A>C) polymorphisms of the XPC gene: their correlation with the ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val) were shown in a la... | DisGeNET | Detail |
| This meta-analysis including 13 case-control studies evaluated the associations between three common... | DisGeNET | Detail |
| This meta-analysis shows that the XPC PAT and Ala499Val polymorphisms may be associated with an incr... | DisGeNET | Detail |
| The overall genotype and allelotype distributions of XPC intron 9 PAT(+/-) and exon 15 Lys939Gln and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We found a significantly increased risk of lung cancer development in XPD genotype Lys/Gln (OR=1.94;... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of specific TALE nuclease in the presence of a repair matrix containing a long stretch of... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report that regional disparities in mutation density are virtually abolished within transcription... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We found a significantly increased risk of lung cancer development in XPD genotype Lys/Gln (OR=1.94;... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Surprisingly, DSB formation requires the transcription-coupled nucleotide excision repair (TC-NER) f... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our study is focused on the extent of any such chromosomal aberrations with respect to chromium leve... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1800067>R415Q (rs1800... | DisGeNET | Detail |
| When considering sex and SNPs, men with the A-allele in XPC intron 11 C/A have been found to have a ... | DisGeNET | Detail |
| Xeroderma pigmentosum complementation group C protein (XPC) expression in basal cell carcinoma. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Individuals carrying a mutation in XPC genes exhibit marked photosensitivity and increased occurrenc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We retrospectively examined whether there was an association between the selected six single nucleot... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386493716 dbSNP
- Genome
- hg19
- Position
- chr3:14,186,647-14,220,101
- Variant Type
- snv
Genome browser