ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) - Rat Genome Database

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Gene: ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) Homo sapiens
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Symbol: ERCC2
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
RGD ID: 1319264
HGNC Page HGNC
Description: Enables several functions, including 5'-3' DNA helicase activity; protein C-terminus binding activity; and protein N-terminus binding activity. Involved in several processes, including hair cell differentiation; nucleotide-excision repair; and transcription by RNA polymerase II. Acts upstream of or within UV protection and nucleotide-excision repair. Located in cytosol; nucleoplasm; and spindle. Part of CAK-ERCC2 complex; MMXD complex; and RNA polymerase II transcription regulator complex. Implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; carcinoma (multiple); hematologic cancer (multiple); and xeroderma pigmentosum (multiple). Biomarker of Alzheimer's disease and Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic transcription factor 2 80 kDa subunit; BTF2 p80; COFS2; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; EM9; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; general transcription and DNA repair factor IIH helicase subunit XPD; MGC102762; MGC126218; MGC126219; TFIIH; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH basal transcription factor complex helicase XPD subunit; TFIIH p80; TFIIH subunit XPD; trichothiodystrophy; TTD; TTD1; xeroderma pigmentosum complementary group D; xeroderma pigmentosum group D-complementing protein; XPD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1945,349,837 - 45,370,918 (-)EnsemblGRCh38hg38GRCh38
GRCh381945,349,837 - 45,370,647 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371945,853,095 - 45,873,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,546,686 - 50,565,669 (-)NCBINCBI36hg18NCBI36
Build 341950,546,685 - 50,565,669NCBI
Celera1942,660,603 - 42,679,799 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1942,287,494 - 42,306,749 (-)NCBIHuRef
CHM1_11945,857,950 - 45,877,144 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acoustic neuroma  (IAGP)
acquired immunodeficiency syndrome  (IAGP)
acute leukemia  (IAGP)
acute lymphoblastic leukemia  (IAGP)
acute myeloid leukemia  (IAGP)
Agenesis of Corpus Callosum  (IAGP)
Alzheimer's disease  (IEP)
Anthracycline-induced Cardiotoxicity  (IAGP)
asphyxia neonatorum  (ISO)
autosomal recessive congenital ichthyosis  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IAGP)
breast cancer  (IAGP)
Breast Neoplasms  (IAGP)
cataract  (ISO)
cerebrooculofacioskeletal syndrome 1  (IAGP)
cerebrooculofacioskeletal syndrome 2  (IAGP)
Chromosome Aberrations  (IAGP)
chronic myeloid leukemia  (IAGP)
Cockayne syndrome  (ISO)
Colorectal Neoplasms  (EXP)
Congenital Ichthyosis with Trichothiodystrophy  (IAGP)
coronary artery disease  (IAGP)
Down syndrome  (IEP)
Drug-induced Neutropenia  (IAGP)
Drug-Related Side Effects and Adverse Reactions  (IAGP)
Endometrial Neoplasms  (IAGP)
epidermolytic hyperkeratosis  (EXP)
Gallbladder Neoplasms  (IAGP)
genetic disease  (IAGP)
Head and Neck Neoplasms  (IEP)
hepatocellular carcinoma  (IAGP)
high grade glioma  (IAGP)
hypotrichosis 1  (IAGP)
Lung Neoplasms  (IAGP,IEA)
lung non-small cell carcinoma  (IAGP)
macular degeneration  (IAGP)
melanoma  (IAGP)
metachromatic leukodystrophy  (IAGP)
Mouth Neoplasms  (IAGP)
multiple myeloma  (IAGP)
myelodysplastic syndrome  (IAGP)
myelofibrosis  (IAGP)
Occupational Diseases  (EXP)
oral mucosa leukoplakia  (IAGP)
osteosarcoma  (IAGP)
Ovarian Neoplasms  (IAGP)
ovary epithelial cancer  (IAGP)
pancreatic cancer  (IAGP,IDA)
photosensitive trichothiodystrophy  (IAGP,ISS)
photosensitive trichothiodystrophy 1  (IAGP)
photosensitive trichothiodystrophy 3  (IAGP)
prostate cancer  (IAGP)
Prostatic Neoplasms  (EXP)
senile cataract  (IAGP)
Skin Abnormalities  (EXP)
skin disease  (EXP,IAGP)
Skin Neoplasms  (EXP)
squamous cell carcinoma  (EXP)
stomach cancer  (IAGP)
Stomach Neoplasms  (EXP)
Sunburn  (EXP)
trichothiodystrophy  (IAGP,ISO)
urinary bladder cancer  (EXP,IAGP)
xeroderma pigmentosum  (IAGP)
xeroderma pigmentosum group D  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal B cell morphology  (IAGP)
Abnormal leukocyte morphology  (IAGP)
Abnormal myeloid leukocyte morphology  (IAGP)
Abnormal neutrophil count  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality of amino acid metabolism  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the ovary  (IAGP)
Abnormality of vision  (IAGP)
Absence of subcutaneous fat  (IAGP)
Age-related cataract  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Ankyloblepharon  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Arteriosclerosis  (IAGP)
Arthralgia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Asthma  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bird-like facies  (IAGP)
Blepharitis  (IAGP)
Brittle hair  (IAGP)
Bronchospasm  (IAGP)
Cachexia  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiomyopathy  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral dysmyelination  (IAGP)
Choreoathetosis  (IAGP)
Chronic diarrhea  (IAGP)
Clubbing  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Concave nail  (IAGP)
Confusion  (IAGP)
Congenital exfoliative erythroderma  (IAGP)
Congenital nonbullous ichthyosiform erythroderma  (IAGP)
Conjunctival telangiectasia  (IAGP)
Conjunctivitis  (IAGP)
Convex nasal ridge  (IAGP)
Corneal neovascularization  (IAGP)
Craniofacial hyperostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased testicular size  (IAGP)
Deeply set eye  (IAGP)
Defective DNA repair after ultraviolet radiation damage  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Dermal atrophy  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebellar atrophy  (IAGP)
Diplopia  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysphonia  (IAGP)
Dystrophic fingernails  (IAGP)
Ectropion  (IAGP)
Eczema  (IAGP)
EEG abnormality  (IAGP)
Enamel hypoplasia  (IAGP)
Entropion  (IAGP)
Epicanthus  (IAGP)
Erythema  (IAGP)
Erythroderma  (IAGP)
Esotropia  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Fine hair  (IAGP)
Flat nasal alae  (IAGP)
Flexion contracture  (IAGP)
Fragile nails  (IAGP)
Freckling  (IAGP)
Gait ataxia  (IAGP)
Generalized hyperreflexia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Gonadal dysgenesis  (IAGP)
Hearing impairment  (IAGP)
Hepatocellular carcinoma  (IAGP)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hyperkeratosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of mandible relative to maxilla  (IAGP)
Hyporeflexia  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Impaired social reciprocity  (IAGP)
Increased bone mineral density  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Intention tremor  (IAGP)
Intestinal obstruction  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Joint stiffness  (IAGP)
Keratitis  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Kyphoscoliosis  (IAGP)
Large beaked nose  (IAGP)
Low-set nipples  (IAGP)
Macular degeneration  (IAGP)
Malabsorption  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Mental deterioration  (IAGP)
Metachromatic leukodystrophy variant  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Multiple joint contractures  (IAGP)
Myopia  (IAGP)
Nail dystrophy  (IAGP)
Neoplasm of the eye  (IAGP)
Neutropenia  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Numerous pigmented freckles  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Osteopenia  (IAGP)
Osteosarcoma  (IAGP)
Ovarian carcinoma  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Papilloma  (IAGP)
Paraplegia/paraparesis  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peripheral neuropathy  (IAGP)
Periventricular leukomalacia  (IAGP)
Photophobia  (IAGP)
Poikiloderma  (IAGP)
Prematurely aged appearance  (IAGP)
Presence of xenobiotic  (IAGP)
Prominent metopic ridge  (IAGP)
Prostate cancer  (IAGP)
Protruding ear  (IAGP)
Psychomotor retardation  (IAGP)
Pterygium  (IAGP)
Recurrent bronchopulmonary infections  (IAGP)
Recurrent infections  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinopathy  (IAGP)
Retrognathia  (IAGP)
Ridged nail  (IAGP)
Rocker bottom foot  (IAGP)
Scrotal hypoplasia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Small for gestational age  (IAGP)
Small nail  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Spasticity  (IAGP)
Split nail  (IAGP)
Squamous cell carcinoma  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Strabismus  (IAGP)
Talipes  (IAGP)
Telangiectasia  (IAGP)
Telangiectasia of the skin  (IAGP)
Thin skin  (IAGP)
Thoracic kyphosis  (IAGP)
Thrombocytopenia  (IAGP)
Tiger tail banding  (IAGP)
Triangular mouth  (IAGP)
Trichorrhexis nodosa  (IAGP)
Umbilical hernia  (IAGP)
Urticaria  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vestibular Schwannoma  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
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Additional References at PubMed
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PMID:11245433   PMID:11266437   PMID:11266560   PMID:11278765   PMID:11309287   PMID:11313499   PMID:11335038   PMID:11375896   PMID:11445587   PMID:11470747   PMID:11532866   PMID:11709541  
PMID:11751380   PMID:11872635   PMID:11888908   PMID:11891028   PMID:11960912   PMID:12110342   PMID:12115580   PMID:12124811   PMID:12151350   PMID:12220217   PMID:12243508   PMID:12359753  
PMID:12372413   PMID:12376500   PMID:12393447   PMID:12393749   PMID:12399122   PMID:12435843   PMID:12451985   PMID:12458209   PMID:12477932   PMID:12552590   PMID:12579497   PMID:12645871  
PMID:12646563   PMID:12692111   PMID:12740916   PMID:12749816   PMID:12820975   PMID:12844488   PMID:12865926   PMID:12883749   PMID:14568296   PMID:14569024   PMID:14624713   PMID:14625810  
PMID:14652287   PMID:14668933   PMID:14688016   PMID:14702039   PMID:14729591   PMID:14735199   PMID:15090466   PMID:15140544   PMID:15146197   PMID:15159312   PMID:15173214   PMID:15199548  
PMID:15199549   PMID:15213713   PMID:15220921   PMID:15277258   PMID:15298945   PMID:15333465   PMID:15381366   PMID:15471894   PMID:15489334   PMID:15523694   PMID:15534626   PMID:15598760  
PMID:15615908   PMID:15635413   PMID:15679883   PMID:15709194   PMID:15729710   PMID:15746040   PMID:15746160   PMID:15754315   PMID:15764301   PMID:15776433   PMID:15802298   PMID:15824159  
PMID:15824172   PMID:15834925   PMID:15837542   PMID:15849729   PMID:15878910   PMID:15885892   PMID:15886521   PMID:15887293   PMID:15896456   PMID:15914210   PMID:15914277   PMID:15936590  
PMID:15941969   PMID:15971256   PMID:15992842   PMID:16000577   PMID:16002061   PMID:16030112   PMID:16030124   PMID:16037119   PMID:16038584   PMID:16043197   PMID:16054878   PMID:16061005  
PMID:16150943   PMID:16172101   PMID:16195237   PMID:16212814   PMID:16214924   PMID:16217922   PMID:16258177   PMID:16280050   PMID:16284370   PMID:16284373   PMID:16284380   PMID:16308313  
PMID:16311243   PMID:16319991   PMID:16324877   PMID:16341674   PMID:16343742   PMID:16344560   PMID:16351803   PMID:16369171   PMID:16373199   PMID:16399771   PMID:16407418   PMID:16435384  
PMID:16465622   PMID:16475125   PMID:16492913   PMID:16492920   PMID:16507781   PMID:16537713   PMID:16542436   PMID:16564556   PMID:16571649   PMID:16609022   PMID:16622263   PMID:16638864  
PMID:16646069   PMID:16649224   PMID:16652373   PMID:16669699   PMID:16672066   PMID:16677755   PMID:16685590   PMID:16707649   PMID:16710452   PMID:16738949   PMID:16806697   PMID:16823510  
PMID:16824555   PMID:16835333   PMID:16865671   PMID:16875604   PMID:16875718   PMID:16875933   PMID:16880786   PMID:16884686   PMID:16889696   PMID:16889989   PMID:16896002   PMID:16985021  
PMID:16997330   PMID:17009404   PMID:17018785   PMID:17023576   PMID:17063276   PMID:17078101   PMID:17088560   PMID:17111423   PMID:17131345   PMID:17151930   PMID:17158087   PMID:17164360  
PMID:17164380   PMID:17191090   PMID:17210993   PMID:17242676   PMID:17264068   PMID:17299578   PMID:17313739   PMID:17363013   PMID:17374967   PMID:17401013   PMID:17403617   PMID:17409981  
PMID:17410042   PMID:17412371   PMID:17438655   PMID:17438703   PMID:17466626   PMID:17470448   PMID:17479411   PMID:17504986   PMID:17531525   PMID:17548684   PMID:17549067   PMID:17556064  
PMID:17575242   PMID:17593927   PMID:17604576   PMID:17605237   PMID:17614221   PMID:17617021   PMID:17627014   PMID:17630376   PMID:17630853   PMID:17637462   PMID:17685459   PMID:17687452  
PMID:17693188   PMID:17696747   PMID:17705814   PMID:17712032   PMID:17728339   PMID:17825393   PMID:17896209   PMID:17898541   PMID:17912469   PMID:17913280   PMID:17925548   PMID:17932351  
PMID:17952468   PMID:17953974   PMID:18006925   PMID:18035379   PMID:18043991   PMID:18044339   PMID:18075460   PMID:18081788   PMID:18085999   PMID:18095557   PMID:18177646   PMID:18196582  
PMID:18204222   PMID:18230301   PMID:18246963   PMID:18267032   PMID:18315909   PMID:18320070   PMID:18335219   PMID:18347182   PMID:18349268   PMID:18349297   PMID:18358500   PMID:18365755  
PMID:18386788   PMID:18394656   PMID:18415014   PMID:18415712   PMID:18420361   PMID:18442012   PMID:18448328   PMID:18454848   PMID:18459458   PMID:18470933   PMID:18478337   PMID:18483312  
PMID:18494946   PMID:18495522   PMID:18505590   PMID:18509181   PMID:18534129   PMID:18559563   PMID:18569591   PMID:18575735   PMID:18578568   PMID:18597777   PMID:18603015   PMID:18616887  
PMID:18627000   PMID:18630471   PMID:18635523   PMID:18636124   PMID:18637129   PMID:18641418   PMID:18676680   PMID:18701435   PMID:18709642   PMID:18711149   PMID:18752184   PMID:18767034  
PMID:18778871   PMID:18797464   PMID:18817897   PMID:18825991   PMID:18830263   PMID:18838045   PMID:18854777   PMID:18946634   PMID:18977234   PMID:18990748   PMID:19027756   PMID:19027952  
PMID:19029193   PMID:19041121   PMID:19051060   PMID:19052983   PMID:19064572   PMID:19074750   PMID:19074885   PMID:19096231   PMID:19106100   PMID:19109787   PMID:19116388   PMID:19124519  
PMID:19162321   PMID:19170196   PMID:19177501   PMID:19203783   PMID:19237606   PMID:19242824   PMID:19257887   PMID:19270000   PMID:19274602   PMID:19280628   PMID:19332728   PMID:19362955  
PMID:19367277   PMID:19390575   PMID:19406934   PMID:19414392   PMID:19429237   PMID:19432884   PMID:19434073   PMID:19454010   PMID:19458053   PMID:19466538   PMID:19470925   PMID:19492231  
PMID:19536092   PMID:19554020   PMID:19561388   PMID:19573080   PMID:19592152   PMID:19615095   PMID:19620936   PMID:19625176   PMID:19636001   PMID:19638463   PMID:19642387   PMID:19657998  
PMID:19669592   PMID:19692168   PMID:19706646   PMID:19706757   PMID:19707883   PMID:19724896   PMID:19733688   PMID:19736055   PMID:19762325   PMID:19773279   PMID:19789190   PMID:19826048  
PMID:19846926   PMID:19858398   PMID:19878615   PMID:19895736   PMID:19902366   PMID:19908066   PMID:19913121   PMID:19914098   PMID:19922504   PMID:19934020   PMID:19954624   PMID:19957595  
PMID:20003391   PMID:20003463   PMID:20047592   PMID:20061190   PMID:20070155   PMID:20104979   PMID:20111903   PMID:20127278   PMID:20143185   PMID:20170971   PMID:20183911   PMID:20199546  
PMID:20204500   PMID:20216541   PMID:20229274   PMID:20232359   PMID:20232390   PMID:20301571   PMID:20351547   PMID:20354818   PMID:20368715   PMID:20379402   PMID:20379847   PMID:20385995  
PMID:20391138   PMID:20391347   PMID:20426969   PMID:20429839   PMID:20431719   PMID:20453000   PMID:20495366   PMID:20496165   PMID:20504250   PMID:20508946   PMID:20514470   PMID:20522537  
PMID:20530282   PMID:20530453   PMID:20541997   PMID:20559012   PMID:20564624   PMID:20568454   PMID:20571908   PMID:20575039   PMID:20601096   PMID:20627363   PMID:20627704   PMID:20628086  
PMID:20634891   PMID:20644561   PMID:20649433   PMID:20651370   PMID:20651612   PMID:20677654   PMID:20708344   PMID:20720310   PMID:20723346   PMID:20723587   PMID:20731661   PMID:20734048  
PMID:20797633   PMID:20813000   PMID:20817763   PMID:20832885   PMID:20833695   PMID:20842450   PMID:20850372   PMID:20863780   PMID:20864414   PMID:20935060   PMID:20957144   PMID:20979431  
PMID:20981350   PMID:20981556   PMID:21048041   PMID:21057378   PMID:21075476   PMID:21129812   PMID:21157430   PMID:21167544   PMID:21178723   PMID:21183201   PMID:21245954   PMID:21264535  
PMID:21278243   PMID:21390502   PMID:21415862   PMID:21418965   PMID:21419115   PMID:21426550   PMID:21463130   PMID:21541661   PMID:21553048   PMID:21601580   PMID:21614524   PMID:21617750  
PMID:21627375   PMID:21633601   PMID:21643959   PMID:21667112   PMID:21726821   PMID:21740187   PMID:21751184   PMID:21788800   PMID:21793320   PMID:21873635   PMID:21890746   PMID:21945240  
PMID:21950097   PMID:21951951   PMID:22047709   PMID:22052224   PMID:22081374   PMID:22110223   PMID:22116596   PMID:22174317   PMID:22179996   PMID:22183307   PMID:22194171   PMID:22199357  
PMID:22213390   PMID:22234153   PMID:22266871   PMID:22306120   PMID:22332413   PMID:22345163   PMID:22351191   PMID:22374424   PMID:22387547   PMID:22427030   PMID:22479369   PMID:22536360  
PMID:22537351   PMID:22579466   PMID:22608006   PMID:22617342   PMID:22644997   PMID:22678361   PMID:22678362   PMID:22740138   PMID:22760492   PMID:22797977   PMID:22826098   PMID:22890093  
PMID:22902626   PMID:22932335   PMID:22938460   PMID:22939629   PMID:22967467   PMID:22994751   PMID:22994779   PMID:23028453   PMID:23028604   PMID:23044807   PMID:23083890   PMID:23098477  
PMID:23108145   PMID:23167354   PMID:23221806   PMID:23229387   PMID:23232694   PMID:23267107   PMID:23271025   PMID:23317245   PMID:23317281   PMID:23382212   PMID:23390054   PMID:23435956  
PMID:23464476   PMID:23534729   PMID:23585563   PMID:23593158   PMID:23602568   PMID:23617284   PMID:23619945   PMID:23669291   PMID:23672414   PMID:23680703   PMID:23700156   PMID:23740134  
PMID:23771356   PMID:23800062   PMID:23884229   PMID:23891004   PMID:23959014   PMID:23973729   PMID:23977265   PMID:23996617   PMID:24023723   PMID:24083550   PMID:24101192   PMID:24140460  
PMID:24157118   PMID:24234258   PMID:24254311   PMID:24258710   PMID:24260311   PMID:24330540   PMID:24338713   PMID:24347488   PMID:24362511   PMID:24390613   PMID:24402573   PMID:24418926  
PMID:24443924   PMID:24486506   PMID:24504678   PMID:24510389   PMID:24531312   PMID:24535265   PMID:24556168   PMID:24577548   PMID:24590266   PMID:24609361   PMID:24619222   PMID:24652592  
PMID:24716840   PMID:24716924   PMID:24761895   PMID:24763305   PMID:24780295   PMID:24787743   PMID:24833529   PMID:24841663   PMID:24845027   PMID:24892639   PMID:24906341   PMID:24933002  
PMID:24938468   PMID:24969862   PMID:25023406   PMID:25089939   PMID:25096233   PMID:25113251   PMID:25117088   PMID:25155628   PMID:25169498   PMID:25209371   PMID:25268380   PMID:25285569  
PMID:25308691   PMID:25391773   PMID:25416956   PMID:25422223   PMID:25469049   PMID:25474887   PMID:25492609   PMID:25520091   PMID:25537147   PMID:25537294   PMID:25542228   PMID:25546681  
PMID:25605938   PMID:25620205   PMID:25715450   PMID:25716912   PMID:25722380   PMID:25731027   PMID:25812040   PMID:25835182   PMID:25867436   PMID:25873778   PMID:25897079   PMID:25916209  
PMID:25921289   PMID:25962431   PMID:25969448   PMID:26001533   PMID:26001739   PMID:26086338   PMID:26124006   PMID:26125734   PMID:26149386   PMID:26186194   PMID:26191265   PMID:26253951  
PMID:26254397   PMID:26264164   PMID:26278177   PMID:26295053   PMID:26314858   PMID:26340423   PMID:26344197   PMID:26345951   PMID:26384665   PMID:26496610   PMID:26505408   PMID:26505449  
PMID:26577220   PMID:26617899   PMID:26627042   PMID:26649138   PMID:26673895   PMID:26682510   PMID:26722489   PMID:26742000   PMID:26760575   PMID:26779634   PMID:26782397   PMID:26823845  
PMID:26898429   PMID:26918371   PMID:26918827   PMID:26985954   PMID:27051024   PMID:27051038   PMID:27064873   PMID:27069143   PMID:27111033   PMID:27114453   PMID:27166553   PMID:27173253  
PMID:27193682   PMID:27262611   PMID:27264556   PMID:27306318   PMID:27323065   PMID:27449101   PMID:27460091   PMID:27465648   PMID:27498913   PMID:27504877   PMID:27527855   PMID:27588464  
PMID:27607585   PMID:27668351   PMID:27686263   PMID:27819744   PMID:27838878   PMID:27863412   PMID:27888704   PMID:27908619   PMID:28088319   PMID:28178521   PMID:28223548   PMID:28230823  
PMID:28380382   PMID:28388903   PMID:28434254   PMID:28474168   PMID:28489582   PMID:28514298   PMID:28514442   PMID:28560653   PMID:28676967   PMID:28700943   PMID:28707579   PMID:29018037  
PMID:29121049   PMID:29264886   PMID:29362353   PMID:29509190   PMID:29544444   PMID:29568061   PMID:29572009   PMID:29669843   PMID:29955894   PMID:29980176   PMID:29980530   PMID:30194171  
PMID:30225185   PMID:30275440   PMID:30279407   PMID:30390177   PMID:30409962   PMID:30429230   PMID:30462913   PMID:30463901   PMID:30535472   PMID:30581498   PMID:30672443   PMID:30844146  
PMID:31077069   PMID:31083486   PMID:31091453   PMID:31124634   PMID:31286393   PMID:31348825   PMID:31450912   PMID:31455402   PMID:31527615   PMID:31738647   PMID:31753913   PMID:31756062  
PMID:31980649   PMID:32245994   PMID:32277685   PMID:32355176   PMID:32397974   PMID:32399998   PMID:32416067   PMID:32519309   PMID:32557569   PMID:32562175   PMID:32711437   PMID:32749109  
PMID:32985517   PMID:33025549   PMID:33226137   PMID:33355950   PMID:33381997  


Genomics

Comparative Map Data
ERCC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1945,349,837 - 45,370,918 (-)EnsemblGRCh38hg38GRCh38
GRCh381945,349,837 - 45,370,647 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371945,853,095 - 45,873,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,546,686 - 50,565,669 (-)NCBINCBI36hg18NCBI36
Build 341950,546,685 - 50,565,669NCBI
Celera1942,660,603 - 42,679,799 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1942,287,494 - 42,306,749 (-)NCBIHuRef
CHM1_11945,857,950 - 45,877,144 (-)NCBICHM1_1
Ercc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39719,115,942 - 19,129,619 (+)NCBIGRCm39mm39
GRCm39 Ensembl719,115,935 - 19,129,619 (+)Ensembl
GRCm38719,382,017 - 19,395,694 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,382,010 - 19,395,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv37719,967,388 - 19,981,041 (+)NCBIGRCm37mm9NCBIm37
MGSCv36718,540,561 - 18,554,214 (+)NCBImm8
Celera716,788,799 - 16,802,456 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.62NCBI
Ercc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2179,033,342 - 79,047,102 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl179,033,326 - 79,047,102 (+)Ensembl
Rnor_6.0180,293,574 - 80,307,334 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,293,566 - 80,307,344 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,559,883 - 81,573,643 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera173,495,273 - 73,509,033 (+)NCBICelera
Cytogenetic Map1q21NCBI
Ercc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555552,355,005 - 2,369,599 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,355,005 - 2,369,599 (-)NCBIChiLan1.0ChiLan1.0
ERCC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11950,897,004 - 50,915,849 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1950,897,004 - 50,915,819 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01942,298,927 - 42,319,816 (-)NCBIMhudiblu_PPA_v0panPan3
ERCC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11110,173,781 - 110,191,612 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1110,173,715 - 110,190,125 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1109,658,382 - 109,676,142 (+)NCBI
ROS_Cfam_1.01110,706,731 - 110,724,500 (+)NCBI
UMICH_Zoey_3.11110,382,350 - 110,400,108 (+)NCBI
UNSW_CanFamBas_1.01110,016,506 - 110,034,248 (+)NCBI
UU_Cfam_GSD_1.01110,886,053 - 110,903,819 (+)NCBI
Ercc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934917,467,848 - 17,482,342 (-)NCBI
SpeTri2.0NW_0049367061,816,561 - 1,829,638 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERCC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl651,734,319 - 51,779,624 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1651,734,318 - 51,757,508 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ERCC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1638,804,296 - 38,823,229 (-)NCBI
ChlSab1.1 Ensembl638,801,423 - 38,823,073 (-)Ensembl
Vero_WHO_p1.0NW_02366607318,405,381 - 18,425,954 (-)NCBI
Ercc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249072,249,323 - 2,263,999 (-)NCBI

Position Markers
D19S908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,870,535 - 45,870,762UniSTSGRCh37
Build 361950,562,375 - 50,562,602RGDNCBI36
Celera1942,676,489 - 42,676,716RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19qUniSTS
HuRef1942,303,441 - 42,303,666UniSTS
Marshfield Genetic Map1969.5UniSTS
Marshfield Genetic Map1969.5RGD
Genethon Genetic Map1969.2UniSTS
deCODE Assembly Map1972.43UniSTS
RH80858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,854,728 - 45,854,867UniSTSGRCh37
Build 361950,546,568 - 50,546,707RGDNCBI36
Celera1942,660,682 - 42,660,821RGD
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.3UniSTS
HuRef1942,287,573 - 42,287,712UniSTS
GeneMap99-GB4 RH Map19250.82UniSTS
GDB:512988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,855,468 - 45,856,039UniSTSGRCh37
Build 361950,547,308 - 50,547,879RGDNCBI36
Celera1942,661,422 - 42,661,993RGD
Cytogenetic Map19q13.3UniSTS
HuRef1942,288,313 - 42,288,884UniSTS
GDB:364012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
RH15967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,854,904 - 45,855,526UniSTSGRCh37
Celera1942,660,858 - 42,661,480UniSTS
Cytogenetic Map19q13.3UniSTS
HuRef1942,287,749 - 42,288,371UniSTS
GeneMap99-GB4 RH Map19253.85UniSTS
GDB:364015  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
GDB:364018  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
GDB:364021  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
GDB:364025  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
GDB:364029  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
MARC_23995-23996:1029525921:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,858,033 - 45,858,961UniSTSGRCh37
Celera1942,663,987 - 42,664,915UniSTS
HuRef1942,290,878 - 42,291,806UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4889
Count of miRNA genes:1096
Interacting mature miRNAs:1397
Transcripts:ENST00000221481, ENST00000391940, ENST00000391941, ENST00000391942, ENST00000391944, ENST00000391945, ENST00000485403, ENST00000586131, ENST00000586441, ENST00000586737, ENST00000586856, ENST00000587376, ENST00000588652, ENST00000591309
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1064 828 1398 132 936 90 2263 617 2924 195 1430 1132 55 207 1561 2
Low 3590 4962 1748 880 2071 601 6146 3679 4354 334 1142 1712 282 1 2201 4013 4 2
Below cutoff 151 127 26

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK092872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL535248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG719746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM769772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM988142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX376468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN388234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA409300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX545267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF098565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000391941   ⟹   ENSP00000375805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,352,209 - 45,370,918 (-)Ensembl
RefSeq Acc Id: ENST00000391942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,351,595 - 45,361,931 (-)Ensembl
RefSeq Acc Id: ENST00000391944   ⟹   ENSP00000375808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,351,594 - 45,370,588 (-)Ensembl
RefSeq Acc Id: ENST00000391945   ⟹   ENSP00000375809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,349,837 - 45,370,573 (-)Ensembl
RefSeq Acc Id: ENST00000485403   ⟹   ENSP00000431229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,358,759 - 45,370,384 (-)Ensembl
RefSeq Acc Id: ENST00000586131   ⟹   ENSP00000464887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,363,986 - 45,370,541 (-)Ensembl
RefSeq Acc Id: ENST00000586441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,364,236 - 45,370,555 (-)Ensembl
RefSeq Acc Id: ENST00000586737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,364,091 - 45,370,555 (-)Ensembl
RefSeq Acc Id: ENST00000586856   ⟹   ENSP00000466998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,365,042 - 45,370,528 (-)Ensembl
RefSeq Acc Id: ENST00000587376   ⟹   ENSP00000465593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,353,150 - 45,364,057 (-)Ensembl
RefSeq Acc Id: ENST00000588652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,351,595 - 45,358,938 (-)Ensembl
RefSeq Acc Id: ENST00000591309   ⟹   ENSP00000465207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,364,037 - 45,370,557 (-)Ensembl
RefSeq Acc Id: ENST00000646507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,350,890 - 45,370,560 (-)Ensembl
RefSeq Acc Id: ENST00000682414   ⟹   ENSP00000507019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,350,413 - 45,370,588 (-)Ensembl
RefSeq Acc Id: ENST00000682508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,349,847 - 45,370,592 (-)Ensembl
RefSeq Acc Id: ENST00000684218   ⟹   ENSP00000507804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,349,847 - 45,370,588 (-)Ensembl
RefSeq Acc Id: ENST00000684264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,349,847 - 45,358,492 (-)Ensembl
RefSeq Acc Id: ENST00000684407   ⟹   ENSP00000507775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,349,847 - 45,370,588 (-)Ensembl
RefSeq Acc Id: ENST00000684458   ⟹   ENSP00000508260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,349,847 - 45,370,588 (-)Ensembl
RefSeq Acc Id: ENST00000684468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,349,847 - 45,358,626 (-)Ensembl
RefSeq Acc Id: NM_000400   ⟹   NP_000391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,349,837 - 45,370,573 (-)NCBI
GRCh371945,854,649 - 45,873,845 (-)ENTREZGENE
Build 361950,546,686 - 50,565,669 (-)NCBI Archive
HuRef1942,287,494 - 42,306,749 (-)ENTREZGENE
CHM1_11945,857,950 - 45,877,144 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130867   ⟹   NP_001124339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,358,782 - 45,370,573 (-)NCBI
GRCh371945,854,649 - 45,873,845 (-)ENTREZGENE
HuRef1942,287,494 - 42,306,749 (-)ENTREZGENE
CHM1_11945,865,318 - 45,877,144 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526611   ⟹   XP_011524913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,349,837 - 45,370,647 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026467   ⟹   XP_016881956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,349,837 - 45,370,583 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001753633
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,349,837 - 45,370,587 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001753634
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,351,695 - 45,370,587 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000391   ⟸   NM_000400
- Peptide Label: isoform 1
- UniProtKB: P18074 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124339   ⟸   NM_001130867
- Peptide Label: isoform 2
- UniProtKB: P18074 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011524913   ⟸   XM_011526611
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016881956   ⟸   XM_017026467
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000466998   ⟸   ENST00000586856
RefSeq Acc Id: ENSP00000464887   ⟸   ENST00000586131
RefSeq Acc Id: ENSP00000465593   ⟸   ENST00000587376
RefSeq Acc Id: ENSP00000375809   ⟸   ENST00000391945
RefSeq Acc Id: ENSP00000375808   ⟸   ENST00000391944
RefSeq Acc Id: ENSP00000375805   ⟸   ENST00000391941
RefSeq Acc Id: ENSP00000431229   ⟸   ENST00000485403
RefSeq Acc Id: ENSP00000465207   ⟸   ENST00000591309
RefSeq Acc Id: ENSP00000508260   ⟸   ENST00000684458
RefSeq Acc Id: ENSP00000507775   ⟸   ENST00000684407
RefSeq Acc Id: ENSP00000507804   ⟸   ENST00000684218
RefSeq Acc Id: ENSP00000507019   ⟸   ENST00000682414
Protein Domains
HBB   Helicase ATP-binding

Promoters
RGD ID:7240399
Promoter ID:EPDNEW_H25945
Type:initiation region
Name:ERCC2_1
Description:ERCC excision repair 2, TFIIH core complex helicase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,370,557 - 45,370,617EPDNEW
RGD ID:6795415
Promoter ID:HG_KWN:30271
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000391940,   ENST00000391941,   ENST00000391942,   OTTHUMT00000109626,   OTTHUMT00000109629,   UC002PBK.1,   UC002PBL.2,   UC010EJZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,565,609 - 50,566,109 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000400.3(ERCC2):c.81_82delinsTT (p.Glu27_Leu28delinsAspPhe) indel not specified [RCV000120780] Chr19:45370156..45370157 [GRCh38]
Chr19:45873414..45873415 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-30dup duplication not specified [RCV000122385] Chr19:45361666..45361667 [GRCh38]
Chr19:45864924..45864925 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-57dup duplication not specified [RCV000122386] Chr19:45361698..45361699 [GRCh38]
Chr19:45864956..45864957 [GRCh37]
Chr19:19q13.32
not provided
ERCC2, 4-BP DEL, NT668 deletion Xeroderma pigmentosum, group D [RCV000018271] Chr19:19q13.2-q13.3 pathogenic
ERCC2, 2-BP DEL, 1781TT deletion Xeroderma pigmentosum, group D [RCV000018280] Chr19:19q13.2-q13.3 pathogenic
ERCC2, 3-BP DEL/6-BP INS, NT1823 indel Xeroderma pigmentosum, group D [RCV000018281] Chr19:19q13.2-q13.3 pathogenic
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV000171546]|Xeroderma pigmentosum, group D [RCV000018267]|not provided [RCV000897210]|not specified [RCV000120764] Chr19:45357368 [GRCh38]
Chr19:45860626 [GRCh37]
Chr19:19q13.32
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter) single nucleotide variant Xeroderma pigmentosum, group D [RCV000018269] Chr19:45352223 [GRCh38]
Chr19:45855481 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV000018270] Chr19:45352226 [GRCh38]
Chr19:45855484 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.1621A>C (p.Ser541Arg) single nucleotide variant Xeroderma pigmentosum, group D [RCV000018272] Chr19:45354774 [GRCh38]
Chr19:45858032 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV000018273]|Xeroderma pigmentosum, group D [RCV000018274]|not provided [RCV000424822] Chr19:45368655 [GRCh38]
Chr19:45871913 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV000018275] Chr19:45352580 [GRCh38]
Chr19:45855838 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV000018276] Chr19:45352262 [GRCh38]
Chr19:45855520 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV000018277] Chr19:45352511 [GRCh38]
Chr19:45855769 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV000171547]|Xeroderma pigmentosum, group D [RCV000018278] Chr19:45352802 [GRCh38]
Chr19:45856060 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro) single nucleotide variant Xeroderma pigmentosum, group D [RCV000018282] Chr19:45357295 [GRCh38]
Chr19:45860553 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV000677676]|Cerebrooculofacioskeletal syndrome 2 [RCV000763052]|ERCC2-related conditions [RCV001265586]|Hypotrichosis simplex [RCV001449816]|Trichothiodystrophy 1, photosensitive [RCV000018283]|Trichothiodystrophy [RCV001199920]|not provided [RCV000255624] Chr19:45352235 [GRCh38]
Chr19:45855493 [GRCh37]
Chr19:19q13.32
pathogenic|risk factor
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV000763053]|Inborn genetic diseases [RCV000623275]|Xeroderma pigmentosum, group D [RCV000018284]|not provided [RCV000518900] Chr19:45352352 [GRCh38]
Chr19:45855610 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3 copy number gain See cases [RCV000054152] Chr19:45287256..45734078 [GRCh38]
Chr19:45790514..46237336 [GRCh37]
Chr19:50482354..50929176 [NCBI36]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1276C>G (p.Pro426Ala) single nucleotide variant not specified [RCV000120763] Chr19:45357661 [GRCh38]
Chr19:45860919 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1489C>T (p.Arg497Cys) single nucleotide variant not provided [RCV001356923]|not specified [RCV000120765] Chr19:45355719 [GRCh38]
Chr19:45858977 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.3(ERCC2):c.1628A>C (p.Gln543Pro) single nucleotide variant not specified [RCV000120766] Chr19:45354767 [GRCh38]
Chr19:45858025 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1703_1704del (p.Phe568fs) deletion Metachromatic leukodystrophy variant [RCV000626683]|Xeroderma pigmentosum, group D [RCV000778548]|not provided [RCV001008079]|not specified [RCV000120767] Chr19:45353296..45353297 [GRCh38]
Chr19:45856554..45856555 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|not provided
NM_000400.3(ERCC2):c.1775G>A (p.Arg592His) single nucleotide variant not specified [RCV000120768] Chr19:45353139 [GRCh38]
Chr19:45856397 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1802G>A (p.Arg601Gln) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131688]|not provided [RCV001579661]|not specified [RCV000120769] Chr19:45353112 [GRCh38]
Chr19:45856370 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV001329858]|Trichothiodystrophy 1, photosensitive [RCV001292799]|Xeroderma pigmentosum, group D [RCV001136196]|not provided [RCV000893772]|not specified [RCV000120770] Chr19:45370191 [GRCh38]
Chr19:45873449 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance|not provided
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) single nucleotide variant Cerebrooculofacioskeletal syndrome 1 [RCV000662069]|Cerebrooculofacioskeletal syndrome 2 [RCV000764209]|Cerebrooculofacioskeletal syndrome 2 [RCV001329853]|Trichothiodystrophy 1, photosensitive [RCV000662070]|Xeroderma pigmentosum, group D [RCV000662071]|not specified [RCV000120771] Chr19:45352761 [GRCh38]
Chr19:45856019 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.3(ERCC2):c.1904C>T (p.Ala635Val) single nucleotide variant Xeroderma pigmentosum, group D [RCV001129001]|not provided [RCV000860939]|not specified [RCV000120772] Chr19:45352648 [GRCh38]
Chr19:45855906 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance|not provided
NM_000400.3(ERCC2):c.2083C>T (p.Arg695Cys) single nucleotide variant Inborn genetic diseases [RCV000624067]|Xeroderma pigmentosum, group D [RCV001129000]|not specified [RCV000120773] Chr19:45352316 [GRCh38]
Chr19:45855574 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) single nucleotide variant ERCC2-Related Disorders [RCV000778547]|Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified [RCV000761018]|Trichothiodystrophy 1, photosensitive [RCV001329855]|Xeroderma pigmentosum, group D [RCV000990227]|not provided [RCV000255243]|not specified [RCV000120774] Chr19:45352249 [GRCh38]
Chr19:45855507 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000400.3(ERCC2):c.2069G>A (p.Arg690Gln) single nucleotide variant not specified [RCV000120775] Chr19:45352330 [GRCh38]
Chr19:45855588 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.2128G>A (p.Val710Met) single nucleotide variant Xeroderma pigmentosum, group D [RCV001135985]|not specified [RCV000120776] Chr19:45352271 [GRCh38]
Chr19:45855529 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) single nucleotide variant Non-small cell lung cancer [RCV000418924]|Osteosarcoma [RCV000436606]|Xeroderma pigmentosum, group D [RCV000282755]|not provided [RCV001514550]|not specified [RCV000120777] Chr19:45351661 [GRCh38]
Chr19:45854919 [GRCh37]
Chr19:19q13.32
benign|not provided
NM_000400.3(ERCC2):c.2263C>T (p.Gln755Ter) single nucleotide variant not specified [RCV000120778] Chr19:45351649 [GRCh38]
Chr19:45854907 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.2231T>C (p.Leu744Pro) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132599]|not specified [RCV000120779] Chr19:45351681 [GRCh38]
Chr19:45854939 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.3(ERCC2):c.974C>T (p.Thr325Met) single nucleotide variant not specified [RCV000120781] Chr19:45363887 [GRCh38]
Chr19:45867145 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1195C>T (p.Leu399Phe) single nucleotide variant ERCC2-Related Disorders [RCV000785055]|not specified [RCV000120782] Chr19:45361566 [GRCh38]
Chr19:45864824 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.3(ERCC2):c.164T>C (p.Leu55Pro) single nucleotide variant not specified [RCV000120783] Chr19:45369089 [GRCh38]
Chr19:45872347 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.284A>G (p.Glu95Gly) single nucleotide variant not provided [RCV000926144]|not specified [RCV000120784] Chr19:45368706 [GRCh38]
Chr19:45871964 [GRCh37]
Chr19:19q13.32
benign|not provided
NM_000400.3(ERCC2):c.294G>C (p.Glu98Asp) single nucleotide variant not provided [RCV000898560]|not specified [RCV000120785] Chr19:45368696 [GRCh38]
Chr19:45871954 [GRCh37]
Chr19:19q13.32
benign|not provided
NM_000400.3(ERCC2):c.545C>T (p.Ala182Val) single nucleotide variant Xeroderma pigmentosum, group D [RCV000358437]|not provided [RCV000896557]|not specified [RCV000120786] Chr19:45364887 [GRCh38]
Chr19:45868145 [GRCh37]
Chr19:19q13.32
benign|uncertain significance|not provided
NM_000400.3(ERCC2):c.514G>A (p.Ala172Thr) single nucleotide variant not specified [RCV000120787] Chr19:45364918 [GRCh38]
Chr19:45868176 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV001262008]|Trichothiodystrophy 1, photosensitive [RCV001294173]|not provided [RCV000224777]|not specified [RCV000120788] Chr19:45364463 [GRCh38]
Chr19:45867721 [GRCh37]
Chr19:19q13.32
uncertain significance|not provided
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) single nucleotide variant Xeroderma pigmentosum, group D [RCV000990231]|not provided [RCV001514552]|not specified [RCV000120789] Chr19:45364001 [GRCh38]
Chr19:45867259 [GRCh37]
Chr19:19q13.32
benign|not provided
NM_000400.3(ERCC2):c.1119-5G>A single nucleotide variant not provided [RCV000913781]|not specified [RCV000122383] Chr19:45361647 [GRCh38]
Chr19:45864905 [GRCh37]
Chr19:19q13.32
likely benign|not provided
NM_000400.3(ERCC2):c.1119-19C>T single nucleotide variant not specified [RCV000122384] Chr19:45361661 [GRCh38]
Chr19:45864919 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-80C>T single nucleotide variant not specified [RCV000122387] Chr19:45361722 [GRCh38]
Chr19:45864980 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-89G>A single nucleotide variant not specified [RCV000122388] Chr19:45361731 [GRCh38]
Chr19:45864989 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-102G>T single nucleotide variant not specified [RCV000122389] Chr19:45361744 [GRCh38]
Chr19:45865002 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-116C>G single nucleotide variant not specified [RCV000122390] Chr19:45361758 [GRCh38]
Chr19:45865016 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-146T>G single nucleotide variant not specified [RCV000122391] Chr19:45361788 [GRCh38]
Chr19:45865046 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-173T>A single nucleotide variant not specified [RCV000122392] Chr19:45361815 [GRCh38]
Chr19:45865073 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.3(ERCC2):c.1119-194C>T single nucleotide variant not specified [RCV000122393] Chr19:45361836 [GRCh38]
Chr19:45865094 [GRCh37]
Chr19:19q13.32
not provided
NM_000400.4(ERCC2):c.949+3G>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001331199] Chr19:45363983 [GRCh38]
Chr19:45867241 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1832-3C>G single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001292783] Chr19:45352819 [GRCh38]
Chr19:45856077 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.595-10G>A single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001331198] Chr19:45364557 [GRCh38]
Chr19:45867815 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) insertion Trichothiodystrophy 1, photosensitive [RCV001294170] Chr19:45357323..45357324 [GRCh38]
Chr19:45860581..45860582 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh38/hg38 19q13.32(chr19:45334306-45387389)x3 copy number gain See cases [RCV000135267] Chr19:45334306..45387389 [GRCh38]
Chr19:45837564..45890647 [GRCh37]
Chr19:50529404..50582487 [NCBI36]
Chr19:19q13.32
likely benign
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32
pathogenic
GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3 copy number gain See cases [RCV000239782] Chr19:45284576..45978239 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:45848774-45896043)x3 copy number gain See cases [RCV000449056] Chr19:45848774..45896043 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2048G>A single nucleotide variant Xeroderma pigmentosum, group D [RCV000248679]|not provided [RCV000812198] Chr19:45352351 [GRCh38]
Chr19:45855609 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.949+22dup duplication not specified [RCV000241568] Chr19:45363958..45363959 [GRCh38]
Chr19:45867216..45867217 [GRCh37]
Chr19:19q13.32
benign
NM_000400.3(ERCC2):c.1758+32C>G single nucleotide variant not specified [RCV000253904] Chr19:45353210 [GRCh38]
Chr19:45856468 [GRCh37]
Chr19:19q13.32
benign
NM_000400.3(ERCC2):c.2190+12G>A single nucleotide variant Xeroderma pigmentosum, group D [RCV000408159]|not provided [RCV001522525]|not specified [RCV000254008] Chr19:45352197 [GRCh38]
Chr19:45855455 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000334441]|not provided [RCV001514551]|not specified [RCV000249244] Chr19:45352266 [GRCh38]
Chr19:45855524 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000323397]|not provided [RCV001514553]|not specified [RCV000242247] Chr19:45365051 [GRCh38]
Chr19:45868309 [GRCh37]
Chr19:19q13.32
benign
NM_000400.3(ERCC2):c.1377+16C>T single nucleotide variant not specified [RCV000244794] Chr19:45357458 [GRCh38]
Chr19:45860716 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.3(ERCC2):c.1737C>T (p.Val579=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131692]|not provided [RCV000971966]|not specified [RCV000249557] Chr19:45353263 [GRCh38]
Chr19:45856521 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.3(ERCC2):c.247-35G>A single nucleotide variant not specified [RCV000250105] Chr19:45368778 [GRCh38]
Chr19:45872036 [GRCh37]
Chr19:19q13.32
benign
NM_000400.3(ERCC2):c.477+9A>C single nucleotide variant Xeroderma pigmentosum, group D [RCV000268370]|not provided [RCV000991965]|not specified [RCV000245437] Chr19:45365033 [GRCh38]
Chr19:45868291 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.3(ERCC2):c.184-16C>T single nucleotide variant not specified [RCV000245709] Chr19:45369008 [GRCh38]
Chr19:45872266 [GRCh37]
Chr19:19q13.32
likely benign
NM_177417.3(KLC3):c.*100C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV000271335] Chr19:45351457 [GRCh38]
Chr19:45854715 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_000400.3(ERCC2):c.1644C>T (p.Thr548=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000272985] Chr19:45354751 [GRCh38]
Chr19:45858009 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000990228]|not provided [RCV000861246] Chr19:45352647 [GRCh38]
Chr19:45855905 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000400.3(ERCC2):c.183+2T>A single nucleotide variant Xeroderma pigmentosum, group D [RCV000260066] Chr19:45369068 [GRCh38]
Chr19:45872326 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.902C>A (p.Thr301Lys) single nucleotide variant Xeroderma pigmentosum, group D [RCV000296729] Chr19:45364033 [GRCh38]
Chr19:45867291 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.740T>C (p.Met247Thr) single nucleotide variant Xeroderma pigmentosum, group D [RCV000309817] Chr19:45364310 [GRCh38]
Chr19:45867568 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV000763054]|Xeroderma pigmentosum [RCV001195426]|Xeroderma pigmentosum, group D [RCV000312948]|not provided [RCV000489442] Chr19:45352801 [GRCh38]
Chr19:45856059 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|not provided
NM_000400.3(ERCC2):c.718+6G>T single nucleotide variant Xeroderma pigmentosum, group D [RCV000362236]|not provided [RCV000991967]|not specified [RCV001579492] Chr19:45364418 [GRCh38]
Chr19:45867676 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.3(ERCC2):c.1276C>T (p.Pro426Ser) single nucleotide variant Xeroderma pigmentosum, group D [RCV000324505] Chr19:45357661 [GRCh38]
Chr19:45860919 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1962C>T (p.Phe654=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000370543]|not provided [RCV000931954] Chr19:45352590 [GRCh38]
Chr19:45855848 [GRCh37]
Chr19:19q13.32
benign|uncertain significance
NM_000400.3(ERCC2):c.949+9C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV000279128]|not provided [RCV000915640] Chr19:45363977 [GRCh38]
Chr19:45867235 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_000400.3(ERCC2):c.147A>G (p.Thr49=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000319886] Chr19:45369106 [GRCh38]
Chr19:45872364 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1479+2dup duplication ERCC2-Related Disorders [RCV000325544]|Xeroderma pigmentosum [RCV000825518] Chr19:45357267..45357268 [GRCh38]
Chr19:45860525..45860526 [GRCh37]
Chr19:19q13.32
likely pathogenic|uncertain significance
NM_177417.3(KLC3):c.*101C>G single nucleotide variant Xeroderma pigmentosum, group D [RCV000328726] Chr19:45351458 [GRCh38]
Chr19:45854716 [GRCh37]
Chr19:19q13.32
benign|uncertain significance
NM_000400.3(ERCC2):c.1118+4C>G single nucleotide variant Xeroderma pigmentosum, group D [RCV000284872]|not provided [RCV001320125] Chr19:45363739 [GRCh38]
Chr19:45866997 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1237+5G>A single nucleotide variant Xeroderma pigmentosum, group D [RCV000377066] Chr19:45361519 [GRCh38]
Chr19:45864777 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.2260G>C (p.Glu754Gln) single nucleotide variant Xeroderma pigmentosum, group D [RCV000379994]|not provided [RCV001351124] Chr19:45351652 [GRCh38]
Chr19:45854910 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_177417.3(KLC3):c.*120A>G single nucleotide variant Xeroderma pigmentosum, group D [RCV000381238] Chr19:45351477 [GRCh38]
Chr19:45854735 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.308C>T (p.Pro103Leu) single nucleotide variant Xeroderma pigmentosum, group D [RCV000354908] Chr19:45368682 [GRCh38]
Chr19:45871940 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.691G>A (p.Val231Met) single nucleotide variant Xeroderma pigmentosum, group D [RCV000405095] Chr19:45364451 [GRCh38]
Chr19:45867709 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_177417.3(KLC3):c.*153G>C single nucleotide variant Xeroderma pigmentosum, group D [RCV000289167] Chr19:45351510 [GRCh38]
Chr19:45854768 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.749A>C (p.Asn250Thr) single nucleotide variant Xeroderma pigmentosum, group D [RCV000405983] Chr19:45364301 [GRCh38]
Chr19:45867559 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.5+6A>C single nucleotide variant Xeroderma pigmentosum, group D [RCV000293941] Chr19:45370530 [GRCh38]
Chr19:45873788 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.946C>G (p.Gln316Glu) single nucleotide variant Xeroderma pigmentosum, group D [RCV000990230] Chr19:45363989 [GRCh38]
Chr19:45867247 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.2191-3C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV000340106] Chr19:45351724 [GRCh38]
Chr19:45854982 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.2142C>G (p.Val714=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000300493] Chr19:45352257 [GRCh38]
Chr19:45855515 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.776G>A (p.Cys259Tyr) single nucleotide variant ERCC2-Related Disorders [RCV000349442]|not provided [RCV000435999] Chr19:45364274 [GRCh38]
Chr19:45867532 [GRCh37]
Chr19:19q13.32
pathogenic|uncertain significance
NM_000400.3(ERCC2):c.988C>T (p.Leu330=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000318853]|not provided [RCV000900496] Chr19:45363873 [GRCh38]
Chr19:45867131 [GRCh37]
Chr19:19q13.32
benign|uncertain significance
NM_000400.3(ERCC2):c.2127C>T (p.Thr709=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000390659]|not provided [RCV000915697] Chr19:45352272 [GRCh38]
Chr19:45855530 [GRCh37]
Chr19:19q13.32
benign|uncertain significance
NM_000400.3(ERCC2):c.1363A>G (p.Ile455Val) single nucleotide variant Xeroderma pigmentosum, group D [RCV000266977] Chr19:45357488 [GRCh38]
Chr19:45860746 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.572C>T (p.Pro191Leu) single nucleotide variant Xeroderma pigmentosum, group D [RCV000303671] Chr19:45364860 [GRCh38]
Chr19:45868118 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1404C>T (p.Pro468=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000363853] Chr19:45357345 [GRCh38]
Chr19:45860603 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1649C>T (p.Ala550Val) single nucleotide variant Xeroderma pigmentosum, group D [RCV000365133] Chr19:45354746 [GRCh38]
Chr19:45858004 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_177417.3(KLC3):c.*66_*67insT insertion Xeroderma pigmentosum [RCV000386929] Chr19:45351423..45351424 [GRCh38]
Chr19:45854681..45854682 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001130867.1(ERCC2):c.-5_-3del deletion ERCC2-Related Disorders [RCV000374357] Chr19:45370168..45370170 [GRCh38]
Chr19:45873426..45873428 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.*31G>A single nucleotide variant Xeroderma pigmentosum, group D [RCV000341702] Chr19:45351598 [GRCh38]
Chr19:45854856 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.950-13C>A single nucleotide variant Xeroderma pigmentosum, group D [RCV000375762] Chr19:45363924 [GRCh38]
Chr19:45867182 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.2094G>A (p.Gln698=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000313554] Chr19:45352305 [GRCh38]
Chr19:45855563 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.2046+1G>T single nucleotide variant not provided [RCV000591465] Chr19:45352505 [GRCh38]
Chr19:45855763 [GRCh37]
Chr19:19q13.32
pathogenic
GRCh37/hg19 19q13.32(chr19:45835983-45888962)x3 copy number gain not provided [RCV000752716] Chr19:45835983..45888962 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19q13.32(chr19:45835983-45895521)x3 copy number gain not provided [RCV000752717] Chr19:45835983..45895521 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19q13.32(chr19:45840020-45907860)x3 copy number gain not provided [RCV000752718] Chr19:45840020..45907860 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19q13.32(chr19:45834975-45902048)x3 copy number gain not provided [RCV000752715] Chr19:45834975..45902048 [GRCh37]
Chr19:19q13.32
benign
NM_000400.3(ERCC2):c.594+2_594+5del deletion Trichothiodystrophy 1, photosensitive [RCV000454337]|Xeroderma pigmentosum, group D [RCV000454224]|not provided [RCV000599593] Chr19:45364833..45364836 [GRCh38]
Chr19:45868091..45868094 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.3(ERCC2):c.950-13C>T single nucleotide variant not specified [RCV000442252] Chr19:45363924 [GRCh38]
Chr19:45867182 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.3(ERCC2):c.2005del (p.Arg669fs) deletion not provided [RCV000513891] Chr19:45352547 [GRCh38]
Chr19:45855805 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.1666-2A>T single nucleotide variant not provided [RCV000479437] Chr19:45353336 [GRCh38]
Chr19:45856594 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.3(ERCC2):c.275A>G (p.Asn92Ser) single nucleotide variant not specified [RCV000500978] Chr19:45368715 [GRCh38]
Chr19:45871973 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1906C>T (p.Arg636Trp) single nucleotide variant not provided [RCV000494513] Chr19:45352646 [GRCh38]
Chr19:45855904 [GRCh37]
Chr19:19q13.32
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_000400.3(ERCC2):c.2080C>T (p.Pro694Ser) single nucleotide variant Metachromatic leukodystrophy variant [RCV000626684] Chr19:45352319 [GRCh38]
Chr19:45855577 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000400.3(ERCC2):c.466_468delinsTGC (p.Arg156Cys) indel not provided [RCV000597751] Chr19:45365051..45365053 [GRCh38]
Chr19:45868309..45868311 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.3(ERCC2):c.1339_1341delinsTT (p.Val447fs) indel not provided [RCV000627546] Chr19:45357510..45357512 [GRCh38]
Chr19:45860768..45860770 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.3(ERCC2):c.601C>T (p.His201Tyr) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131818]|not provided [RCV000658844] Chr19:45364541 [GRCh38]
Chr19:45867799 [GRCh37]
Chr19:19q13.32
conflicting interpretations of pathogenicity|uncertain significance
NM_000400.3(ERCC2):c.2092C>T (p.Gln698Ter) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV000677677] Chr19:45352307 [GRCh38]
Chr19:45855565 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.4(ERCC2):c.1118+251A>G single nucleotide variant not provided [RCV001548197] Chr19:45363492 [GRCh38]
Chr19:45866750 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) single nucleotide variant not provided [RCV001529725] Chr19:45364330 [GRCh38]
Chr19:45867588 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.687C>T (p.Ala229=) single nucleotide variant not provided [RCV000915562]|not specified [RCV001579378] Chr19:45364455 [GRCh38]
Chr19:45867713 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) microsatellite Craniopharyngioma [RCV000761139] Chr19:45357482..45357484 [GRCh38]
Chr19:45860740..45860742 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn) single nucleotide variant Xeroderma pigmentosum, group D [RCV001136198]|not provided [RCV000991966] Chr19:45370232 [GRCh38]
Chr19:45873490 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1238-867C>T single nucleotide variant not provided [RCV001550782] Chr19:45358566 [GRCh38]
Chr19:45861824 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.348T>C (p.Cys116=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132799] Chr19:45368642 [GRCh38]
Chr19:45871900 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.978C>G (p.Ala326=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001136107] Chr19:45363883 [GRCh38]
Chr19:45867141 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.229G>A (p.Val77Met) single nucleotide variant Xeroderma pigmentosum, group D [RCV001136192] Chr19:45368947 [GRCh38]
Chr19:45872205 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.*162G>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001131561] Chr19:45351467 [GRCh38]
Chr19:45854725 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131687] Chr19:45353099 [GRCh38]
Chr19:45856357 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.552G>C (p.Gly184=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131819]|not provided [RCV000927354] Chr19:45364880 [GRCh38]
Chr19:45868138 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_000400.4(ERCC2):c.595-8C>A single nucleotide variant not provided [RCV000971680] Chr19:45364555 [GRCh38]
Chr19:45867813 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) single nucleotide variant not provided [RCV000884903] Chr19:45354763 [GRCh38]
Chr19:45858021 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.4(ERCC2):c.138C>T (p.Thr46=) single nucleotide variant not provided [RCV000922675] Chr19:45369115 [GRCh38]
Chr19:45872373 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2191-4G>A single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001294171]|Xeroderma pigmentosum, group D [RCV001135983]|not provided [RCV000967520] Chr19:45351725 [GRCh38]
Chr19:45854983 [GRCh37]
Chr19:19q13.32
benign|likely benign|uncertain significance
NM_000400.4(ERCC2):c.1119-6C>T single nucleotide variant not provided [RCV000903462] Chr19:45361648 [GRCh38]
Chr19:45864906 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001129004]|not provided [RCV000880351] Chr19:45352782 [GRCh38]
Chr19:45856040 [GRCh37]
Chr19:19q13.32
benign|likely benign|uncertain significance
NM_000400.4(ERCC2):c.1377+8C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001132706]|not provided [RCV000880158] Chr19:45357466 [GRCh38]
Chr19:45860724 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_000400.4(ERCC2):c.1832-6C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001131686]|not provided [RCV000965452] Chr19:45352822 [GRCh38]
Chr19:45856080 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.4(ERCC2):c.1302C>T (p.His434=) single nucleotide variant not provided [RCV000927353] Chr19:45357635 [GRCh38]
Chr19:45860893 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.3(ERCC2):c.184-1G>T single nucleotide variant Xeroderma pigmentosum, group D [RCV000770816] Chr19:45368993 [GRCh38]
Chr19:45872251 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.298G>T (p.Glu100Ter) single nucleotide variant Xeroderma pigmentosum, group D [RCV000770817] Chr19:45368692 [GRCh38]
Chr19:45871950 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.121G>T (p.Glu41Ter) single nucleotide variant Xeroderma pigmentosum, group D [RCV000770818] Chr19:45369132 [GRCh38]
Chr19:45872390 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.3(ERCC2):c.816-2A>G single nucleotide variant Xeroderma pigmentosum, group D [RCV000778549] Chr19:45364121 [GRCh38]
Chr19:45867379 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.3(ERCC2):c.452_461del (p.Ser151fs) deletion Xeroderma pigmentosum, group D [RCV000778550] Chr19:45365058..45365067 [GRCh38]
Chr19:45868316..45868325 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132798]|not provided [RCV000939207] Chr19:45365132 [GRCh38]
Chr19:45868390 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) single nucleotide variant not provided [RCV000861283] Chr19:45354811 [GRCh38]
Chr19:45858069 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.423T>C (p.Tyr141=) single nucleotide variant not provided [RCV000937888] Chr19:45365096 [GRCh38]
Chr19:45868354 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1167C>T (p.Thr389=) single nucleotide variant not provided [RCV000942285] Chr19:45361594 [GRCh38]
Chr19:45864852 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1308-10C>T single nucleotide variant not provided [RCV000922832] Chr19:45357553 [GRCh38]
Chr19:45860811 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.69C>T (p.Ser23=) single nucleotide variant not provided [RCV000918686] Chr19:45370169 [GRCh38]
Chr19:45873427 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132705]|not provided [RCV000978494] Chr19:45357323 [GRCh38]
Chr19:45860581 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_000400.4(ERCC2):c.633C>T (p.Tyr211=) single nucleotide variant not provided [RCV000892753] Chr19:45364509 [GRCh38]
Chr19:45867767 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.1378-8C>T single nucleotide variant not provided [RCV000917756] Chr19:45357379 [GRCh38]
Chr19:45860637 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.828A>T (p.Thr276=) single nucleotide variant not provided [RCV000916767] Chr19:45364107 [GRCh38]
Chr19:45867365 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.195G>T (p.Leu65=) single nucleotide variant not provided [RCV000980329] Chr19:45368981 [GRCh38]
Chr19:45872239 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) single nucleotide variant not provided [RCV000981321] Chr19:45357534 [GRCh38]
Chr19:45860792 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2115C>T (p.Asn705=) single nucleotide variant not provided [RCV000976072] Chr19:45352284 [GRCh38]
Chr19:45855542 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.3(ERCC2):c.2046+3G>A single nucleotide variant not provided [RCV000842411] Chr19:45352503 [GRCh38]
Chr19:45855761 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1510A>G (p.Ile504Val) single nucleotide variant not provided [RCV000996943] Chr19:45355698 [GRCh38]
Chr19:45858956 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:45768506-45872300)x3 copy number gain not provided [RCV000848279] Chr19:45768506..45872300 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1307+14C>G single nucleotide variant Xeroderma pigmentosum, group D [RCV001136106] Chr19:45357616 [GRCh38]
Chr19:45860874 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.*78C>A single nucleotide variant Xeroderma pigmentosum, group D [RCV001131563] Chr19:45351551 [GRCh38]
Chr19:45854809 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance
NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys) single nucleotide variant Trichothiodystrophy [RCV000785056] Chr19:45354759 [GRCh38]
Chr19:45858017 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.3(ERCC2):c.466C>T (p.Arg156Ter) single nucleotide variant ERCC2-Related Disorders [RCV000784900] Chr19:45365053 [GRCh38]
Chr19:45868311 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.739A>G (p.Met247Val) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131816] Chr19:45364311 [GRCh38]
Chr19:45867569 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131817] Chr19:45364535 [GRCh38]
Chr19:45867793 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132598] Chr19:45351665 [GRCh38]
Chr19:45854923 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) single nucleotide variant Xeroderma pigmentosum, group D [RCV000990229] Chr19:45352803 [GRCh38]
Chr19:45856061 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.417C>G (p.Ala139=) single nucleotide variant not provided [RCV000861416] Chr19:45365102 [GRCh38]
Chr19:45868360 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.1824C>A (p.Ile608=) single nucleotide variant not provided [RCV000980311] Chr19:45353090 [GRCh38]
Chr19:45856348 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1266C>T (p.Asp422=) single nucleotide variant not provided [RCV000896060] Chr19:45357671 [GRCh38]
Chr19:45860929 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.*167C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001131560] Chr19:45351462 [GRCh38]
Chr19:45854720 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001292642]|Xeroderma pigmentosum, group D [RCV001131685] Chr19:45352816 [GRCh38]
Chr19:45856074 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132703]|not provided [RCV001510707] Chr19:45353275 [GRCh38]
Chr19:45856533 [GRCh37]
Chr19:19q13.32
benign|uncertain significance
NM_000400.4(ERCC2):c.567G>A (p.Trp189Ter) single nucleotide variant not provided [RCV001008703] Chr19:45364865 [GRCh38]
Chr19:45868123 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131690]|not provided [RCV000914167] Chr19:45353125 [GRCh38]
Chr19:45856383 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000400.4(ERCC2):c.381G>A (p.Gly127=) single nucleotide variant not provided [RCV000891671] Chr19:45365138 [GRCh38]
Chr19:45868396 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1238G>T (p.Gly413Val) single nucleotide variant not specified [RCV001195371] Chr19:45357699 [GRCh38]
Chr19:45860957 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132597] Chr19:45351634 [GRCh38]
Chr19:45854892 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132704]|not provided [RCV001360953] Chr19:45354789 [GRCh38]
Chr19:45858047 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.*224C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001128894] Chr19:45351405 [GRCh38]
Chr19:45854663 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.*137G>A single nucleotide variant Xeroderma pigmentosum, group D [RCV001131562] Chr19:45351492 [GRCh38]
Chr19:45854750 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1634T>C (p.Met545Thr) single nucleotide variant not provided [RCV001092420] Chr19:45354761 [GRCh38]
Chr19:45858019 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp) single nucleotide variant not provided [RCV001092421] Chr19:45357290 [GRCh38]
Chr19:45860548 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2191-82G>C single nucleotide variant not provided [RCV001569132] Chr19:45351803 [GRCh38]
Chr19:45855061 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1666-228C>T single nucleotide variant not provided [RCV001569284] Chr19:45353562 [GRCh38]
Chr19:45856820 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1238-255G>A single nucleotide variant not provided [RCV001577513] Chr19:45357954 [GRCh38]
Chr19:45861212 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1480-251C>T single nucleotide variant not provided [RCV001550188] Chr19:45355979 [GRCh38]
Chr19:45859237 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1118+245C>G single nucleotide variant not provided [RCV001568908] Chr19:45363498 [GRCh38]
Chr19:45866756 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1238-198G>A single nucleotide variant not provided [RCV001551394] Chr19:45357897 [GRCh38]
Chr19:45861155 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1118+170T>C single nucleotide variant not provided [RCV001563253] Chr19:45363573 [GRCh38]
Chr19:45866831 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1237+185T>C single nucleotide variant not provided [RCV001563279] Chr19:45361339 [GRCh38]
Chr19:45864597 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2191-81G>C single nucleotide variant not provided [RCV001540713] Chr19:45351802 [GRCh38]
Chr19:45855060 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) single nucleotide variant not provided [RCV001573565] Chr19:45354842 [GRCh38]
Chr19:45858100 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln) single nucleotide variant not provided [RCV001573853] Chr19:45352210 [GRCh38]
Chr19:45855468 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1816G>C (p.Glu606Gln) single nucleotide variant not provided [RCV001559696] Chr19:45353098 [GRCh38]
Chr19:45856356 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1053G>A (p.Gln351=) single nucleotide variant not provided [RCV000905455] Chr19:45363808 [GRCh38]
Chr19:45867066 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1170C>T (p.Asp390=) single nucleotide variant not provided [RCV000925516] Chr19:45361591 [GRCh38]
Chr19:45864849 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1338C>T (p.Pro446=) single nucleotide variant not provided [RCV000907702] Chr19:45357513 [GRCh38]
Chr19:45860771 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1725C>A (p.Ala575=) single nucleotide variant not provided [RCV000937292] Chr19:45353275 [GRCh38]
Chr19:45856533 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1389G>A (p.Pro463=) single nucleotide variant not provided [RCV000861055] Chr19:45357360 [GRCh38]
Chr19:45860618 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.297C>T (p.Gly99=) single nucleotide variant not provided [RCV000904113] Chr19:45368693 [GRCh38]
Chr19:45871951 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.156G>A (p.Leu52=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001136194]|not provided [RCV000931392] Chr19:45369097 [GRCh38]
Chr19:45872355 [GRCh37]
Chr19:19q13.32
benign|uncertain significance
NM_000400.4(ERCC2):c.950-4G>A single nucleotide variant not provided [RCV000886426] Chr19:45363915 [GRCh38]
Chr19:45867173 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1842C>T (p.Tyr614=) single nucleotide variant not provided [RCV000933063] Chr19:45352806 [GRCh38]
Chr19:45856064 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.18C>T (p.Asp6=) single nucleotide variant not provided [RCV000996944] Chr19:45370220 [GRCh38]
Chr19:45873478 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131689]|not provided [RCV001267911] Chr19:45353113 [GRCh38]
Chr19:45856371 [GRCh37]
Chr19:19q13.32
pathogenic|uncertain significance
NM_000400.4(ERCC2):c.*68G>A single nucleotide variant Xeroderma pigmentosum, group D [RCV001132596] Chr19:45351561 [GRCh38]
Chr19:45854819 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser) single nucleotide variant Xeroderma pigmentosum, group D [RCV001132797] Chr19:45364905 [GRCh38]
Chr19:45868163 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001294169]|Xeroderma pigmentosum, group D [RCV001136105] Chr19:45357512 [GRCh38]
Chr19:45860770 [GRCh37]
Chr19:19q13.32
benign|uncertain significance
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) single nucleotide variant not provided [RCV000912502] Chr19:45364443 [GRCh38]
Chr19:45867701 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.1238-1479A>G single nucleotide variant not provided [RCV001575019] Chr19:45359178 [GRCh38]
Chr19:45862436 [GRCh37]
Chr19:19q13.32
likely benign
Single allele single nucleotide variant not provided [RCV001575370] Chr19:45370730 [GRCh38]
Chr19:45873988 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.*119del deletion not provided [RCV001578031] Chr19:45351510 [GRCh38]
Chr19:45854768 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1238-1155C>G single nucleotide variant not provided [RCV000991964] Chr19:45358854 [GRCh38]
Chr19:45862112 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr) single nucleotide variant not provided [RCV001576927] Chr19:45354810 [GRCh38]
Chr19:45858068 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1480-76_1480-74del deletion not provided [RCV001538704] Chr19:45355802..45355804 [GRCh38]
Chr19:45859060..45859062 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2009del (p.Gly670fs) deletion not provided [RCV001531475] Chr19:45352543 [GRCh38]
Chr19:45855801 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys) single nucleotide variant Xeroderma pigmentosum, group D [RCV001136197] Chr19:45370206 [GRCh38]
Chr19:45873464 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2056C>T (p.Arg686Cys) single nucleotide variant not provided [RCV001092418] Chr19:45352343 [GRCh38]
Chr19:45855601 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.*181G>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001128896] Chr19:45351448 [GRCh38]
Chr19:45854706 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys) single nucleotide variant Xeroderma pigmentosum, group D [RCV001129002] Chr19:45352757 [GRCh38]
Chr19:45856015 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile) single nucleotide variant Xeroderma pigmentosum, group D [RCV001129003] Chr19:45352781 [GRCh38]
Chr19:45856039 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.594+58C>T single nucleotide variant not provided [RCV001541513] Chr19:45364780 [GRCh38]
Chr19:45868038 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.2191-84del deletion not provided [RCV001536888] Chr19:45351805 [GRCh38]
Chr19:45855063 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.105+134T>C single nucleotide variant not provided [RCV001574650] Chr19:45369999 [GRCh38]
Chr19:45873257 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2190+11C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001135984] Chr19:45352198 [GRCh38]
Chr19:45855456 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.184-5G>C single nucleotide variant Xeroderma pigmentosum, group D [RCV001136193] Chr19:45368997 [GRCh38]
Chr19:45872255 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.57C>T (p.Pro19=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001136195] Chr19:45370181 [GRCh38]
Chr19:45873439 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His) single nucleotide variant Xeroderma pigmentosum, group D [RCV001136104]|not provided [RCV001307243] Chr19:45357502 [GRCh38]
Chr19:45860760 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.930G>C (p.Leu310=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001129132] Chr19:45364005 [GRCh38]
Chr19:45867263 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.902C>T (p.Thr301Met) single nucleotide variant Xeroderma pigmentosum, group D [RCV001129133] Chr19:45364033 [GRCh38]
Chr19:45867291 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.5+2T>A single nucleotide variant not provided [RCV001092422] Chr19:45370534 [GRCh38]
Chr19:45873792 [GRCh37]
Chr19:19q13.32
pathogenic
GRCh37/hg19 19q13.32(chr19:45765313-45968157)x3 copy number gain not provided [RCV001007052] Chr19:45765313..45968157 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.*70C>T single nucleotide variant Xeroderma pigmentosum, group D [RCV001131564] Chr19:45351559 [GRCh38]
Chr19:45854817 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys) single nucleotide variant Xeroderma pigmentosum, group D [RCV001131691] Chr19:45353140 [GRCh38]
Chr19:45856398 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1927C>T (p.Gln643Ter) single nucleotide variant not provided [RCV001092419] Chr19:45352625 [GRCh38]
Chr19:45855883 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.4(ERCC2):c.*216G>A single nucleotide variant Xeroderma pigmentosum, group D [RCV001128895] Chr19:45351413 [GRCh38]
Chr19:45854671 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1707del (p.Ile569fs) deletion not provided [RCV001311537] Chr19:45353293 [GRCh38]
Chr19:45856551 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.4(ERCC2):c.821A>G (p.Lys274Arg) single nucleotide variant not provided [RCV001348711] Chr19:45364114 [GRCh38]
Chr19:45867372 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1238-1192G>A single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001292819] Chr19:45358891 [GRCh38]
Chr19:45862149 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001294172] Chr19:45364879 [GRCh38]
Chr19:45868137 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) single nucleotide variant Cerebrooculofacioskeletal syndrome 2 [RCV001261931] Chr19:45365057 [GRCh38]
Chr19:45868315 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2188C>A (p.Arg730=) single nucleotide variant not provided [RCV001308938] Chr19:45352211 [GRCh38]
Chr19:45855469 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2190+1del deletion Trichothiodystrophy 1, photosensitive [RCV001329856] Chr19:45352208 [GRCh38]
Chr19:45855466 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.733G>A (p.Asp245Asn) single nucleotide variant not provided [RCV001528297] Chr19:45364317 [GRCh38]
Chr19:45867575 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1237+20T>A single nucleotide variant not provided [RCV001392103] Chr19:45361504 [GRCh38]
Chr19:45864762 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1119-85G>A single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001292605] Chr19:45361727 [GRCh38]
Chr19:45864985 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001292729] Chr19:45352801 [GRCh38]
Chr19:45856059 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1665+4C>T single nucleotide variant not provided [RCV001369289] Chr19:45354726 [GRCh38]
Chr19:45857984 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.949+18G>A single nucleotide variant not provided [RCV001433976] Chr19:45363968 [GRCh38]
Chr19:45867226 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.820A>T (p.Lys274Ter) single nucleotide variant not provided [RCV001311538] Chr19:45364115 [GRCh38]
Chr19:45867373 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn) single nucleotide variant not provided [RCV001323801] Chr19:45357670 [GRCh38]
Chr19:45860928 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2165G>A (p.Arg722Gln) single nucleotide variant not provided [RCV001338562] Chr19:45352234 [GRCh38]
Chr19:45855492 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) single nucleotide variant Trichothiodystrophy 1, photosensitive [RCV001329857] Chr19:45368656 [GRCh38]
Chr19:45871914 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.4(ERCC2):c.1645G>A (p.Val549Met) single nucleotide variant not provided [RCV001297997] Chr19:45354750 [GRCh38]
Chr19:45858008 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1219G>A (p.Val407Ile) single nucleotide variant not provided [RCV001350423] Chr19:45361542 [GRCh38]
Chr19:45864800 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) insertion Xeroderma pigmentosum, group D [RCV001329854] Chr19:45352545..45352546 [GRCh38]
Chr19:45855803..45855804 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.448A>C (p.Thr150Pro) single nucleotide variant not provided [RCV001309450] Chr19:45365071 [GRCh38]
Chr19:45868329 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1918C>A (p.Leu640Met) single nucleotide variant not provided [RCV001357749] Chr19:45352634 [GRCh38]
Chr19:45855892 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.1680C>T (p.Asn560=) single nucleotide variant not provided [RCV001492292] Chr19:45353320 [GRCh38]
Chr19:45856578 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2040C>T (p.Ala680=) single nucleotide variant not provided [RCV001463263] Chr19:45352512 [GRCh38]
Chr19:45855770 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.260T>C (p.Leu87Pro) single nucleotide variant not provided [RCV001528214] Chr19:45368730 [GRCh38]
Chr19:45871988 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000400.4(ERCC2):c.846G>A (p.Arg282=) single nucleotide variant not provided [RCV001418568] Chr19:45364089 [GRCh38]
Chr19:45867347 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.246+44A>G single nucleotide variant not provided [RCV001528099] Chr19:45368886 [GRCh38]
Chr19:45872144 [GRCh37]
Chr19:19q13.32
benign
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg) single nucleotide variant not provided [RCV001531476] Chr19:45369114 [GRCh38]
Chr19:45872372 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.1903-11C>T single nucleotide variant not provided [RCV001400943] Chr19:45352660 [GRCh38]
Chr19:45855918 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr) single nucleotide variant Corpus callosum, agenesis of [RCV001391262] Chr19:45352228 [GRCh38]
Chr19:45855486 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000400.4(ERCC2):c.1307+18G>A single nucleotide variant not provided [RCV001400500] Chr19:45357612 [GRCh38]
Chr19:45860870 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.5+13C>T single nucleotide variant not provided [RCV001401811] Chr19:45370523 [GRCh38]
Chr19:45873781 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=) single nucleotide variant Xeroderma pigmentosum, group D [RCV001507019] Chr19:45352542 [GRCh38]
Chr19:45855800 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_000400.4(ERCC2):c.105+11G>T single nucleotide variant not provided [RCV001470034] Chr19:45370122 [GRCh38]
Chr19:45873380 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1119-18G>A single nucleotide variant not provided [RCV001463406] Chr19:45361660 [GRCh38]
Chr19:45864918 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1776C>T (p.Arg592=) single nucleotide variant not provided [RCV001463698] Chr19:45353138 [GRCh38]
Chr19:45856396 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1759-17C>T single nucleotide variant not provided [RCV001471836] Chr19:45353172 [GRCh38]
Chr19:45856430 [GRCh37]
Chr19:19q13.32
likely benign
NM_000400.4(ERCC2):c.1118+20G>T single nucleotide variant not provided [RCV001416046] Chr19:45363723 [GRCh38]
Chr19:45866981 [GRCh37]
Chr19:19q13.32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3434 AgrOrtholog
COSMIC ERCC2 COSMIC
Ensembl Genes ENSG00000104884 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000272047 UniProtKB/TrEMBL
Ensembl Protein ENSP00000375805 UniProtKB/TrEMBL
  ENSP00000375808 UniProtKB/TrEMBL
  ENSP00000375809 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431229 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464887 UniProtKB/TrEMBL
  ENSP00000465207 UniProtKB/TrEMBL
  ENSP00000465593 UniProtKB/TrEMBL
  ENSP00000466998 UniProtKB/TrEMBL
  ENSP00000497338 UniProtKB/TrEMBL
  ENSP00000507775 ENTREZGENE
Ensembl Transcript ENST00000391941 UniProtKB/TrEMBL
  ENST00000391944 UniProtKB/TrEMBL
  ENST00000391945 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000485403 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586131 UniProtKB/TrEMBL
  ENST00000586856 UniProtKB/TrEMBL
  ENST00000587376 UniProtKB/TrEMBL
  ENST00000591309 UniProtKB/TrEMBL
  ENST00000648328 UniProtKB/TrEMBL
  ENST00000684218 ENTREZGENE
  ENST00000684407 ENTREZGENE
GTEx ENSG00000104884 GTEx
  ENSG00000272047 GTEx
HGNC ID HGNC:3434 ENTREZGENE
Human Proteome Map ERCC2 Human Proteome Map
InterPro ATP-dep_Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA/RNA_helicase_DEAH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HBB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helic_SF1/SF2_ATP-bd_DinG/Rad3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase-like_DEXD_c2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rad3/Chl1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAD3/XPD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2068 UniProtKB/Swiss-Prot
NCBI Gene 2068 ENTREZGENE
OMIM 126340 OMIM
  278730 OMIM
  601675 OMIM
  610756 OMIM
PANTHER PTHR11472:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HBB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ERCC2 RGD, PharmGKB
PRINTS XRODRMPGMNTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DEAH_ATP_HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs rad3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B1PFW1_HUMAN UniProtKB/TrEMBL
  A0A3B3ISL4_HUMAN UniProtKB/TrEMBL
  A8MX75_HUMAN UniProtKB/TrEMBL
  B4E0F6_HUMAN UniProtKB/TrEMBL
  E7EVE9_HUMAN UniProtKB/TrEMBL
  ERCC2_HUMAN UniProtKB/Swiss-Prot
  K7EIT8_HUMAN UniProtKB/TrEMBL
  K7EKF3_HUMAN UniProtKB/TrEMBL
  K7ENL1_HUMAN UniProtKB/TrEMBL
  P18074 ENTREZGENE
  Q2TB79_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q2TB78 UniProtKB/Swiss-Prot
  Q2YDY2 UniProtKB/Swiss-Prot
  Q7KZU6 UniProtKB/Swiss-Prot
  Q8N721 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 ERCC2  ERCC excision repair 2, TFIIH core complex helicase subunit    excision repair cross-complementation group 2  Symbol and/or name change 5135510 APPROVED
2016-04-05 ERCC2  excision repair cross-complementation group 2  TTD  trichothiodystrophy  Data Merged 737654 PROVISIONAL
2014-03-12 ERCC2  excision repair cross-complementation group 2    excision repair cross-complementing rodent repair deficiency, complementation group 2  Symbol and/or name change 5135510 APPROVED