ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) - Rat Genome Database

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Gene: ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) Homo sapiens
Analyze
Symbol: ERCC3
Name: ERCC excision repair 3, TFIIH core complex helicase subunit
RGD ID: 1316156
HGNC Page HGNC:3435
Description: Enables several functions, including 3'-5' DNA helicase activity; ATP hydrolysis activity; and protein C-terminus binding activity. Involved in several processes, including hair cell differentiation; nucleic acid metabolic process; and regulation of mitotic cell cycle phase transition. Located in nucleoplasm. Part of transcription factor TFIID complex; transcription factor TFIIH core complex; and transcription factor TFIIH holo complex. Implicated in lung non-small cell carcinoma; photosensitive trichothiodystrophy 2; trichothiodystrophy; xeroderma pigmentosum; and xeroderma pigmentosum group B. Biomarker of Alzheimer's disease and Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: basic transcription factor 2 89 kDa subunit; BTF2; BTF2 p89; DNA excision repair protein ERCC-3; DNA repair helicase; DNA repair protein complementing XP-B cells; excision repair cross-complementation group 3; excision repair cross-complementing rodent repair deficiency, complementation group 3; excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing); general transcription and DNA repair factor IIH helicase subunit XPB; GTF2H; RAD25; Ssl2; TFIIH; TFIIH 89 kDa subunit; TFIIH basal transcription factor complex 89 kDa subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH p89; TFIIH subunit XPB; TTD2; xeroderma pigmentosum group B complementing; xeroderma pigmentosum group B-complementing protein; xeroderma pigmentosum, complementation group B; XPB
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
GRCh382127,257,290 - 127,294,144 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2127,257,290 - 127,294,166 (-)EnsemblGRCh38hg38GRCh38
GRCh372128,014,866 - 128,051,720 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362127,731,336 - 127,768,222 (-)NCBINCBI36hg18NCBI36
Build 342127,731,095 - 127,767,982NCBI
Celera2121,326,339 - 121,363,248 (-)NCBI
Cytogenetic Map2q14.3NCBI
HuRef2120,322,147 - 120,359,036 (-)NCBIHuRef
CHM1_12128,019,440 - 128,056,319 (-)NCBICHM1_1
T2T-CHM13v2.02127,692,506 - 127,729,368 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal CNS myelination  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of amino acid metabolism  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Abnormality of the dentition  (IAGP)
Absence of subcutaneous fat  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Ankyloblepharon  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Arteriosclerosis  (IAGP)
Arthralgia  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bird-like facies  (IAGP)
Blepharitis  (IAGP)
Brittle hair  (IAGP)
Bronchospasm  (IAGP)
Cachexia  (IAGP)
Cardiomyopathy  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral dysmyelination  (IAGP)
Clubbing  (IAGP)
Coarse facial features  (IAGP)
Coarse hair  (IAGP)
Cognitive impairment  (IAGP)
Concave nail  (IAGP)
Confusion  (IAGP)
Congenital exfoliative erythroderma  (IAGP)
Congenital nonbullous ichthyosiform erythroderma  (IAGP)
Congenital onset  (IAGP)
Conjunctival telangiectasia  (IAGP)
Craniofacial hyperostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous melanoma  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Decreased testicular size  (IAGP)
Defective DNA repair after ultraviolet radiation damage  (IAGP)
Delayed skeletal maturation  (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)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Flat nasal alae  (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)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hyperkeratosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of mandible relative to maxilla  (IAGP)
Hyporeflexia  (IAGP)
Hypotelorism  (IAGP)
Ichthyosis  (IAGP)
Impaired social reciprocity  (IAGP)
Increased bone mineral density  (IAGP)
Increased cellular sensitivity to UV light  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Keratitis  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Low-set nipples  (IAGP)
Macular degeneration  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Multiple joint contractures  (IAGP)
Myopia  (IAGP)
Neoplasm of the eye  (IAGP)
Neutropenia  (IAGP)
Numerous pigmented freckles  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Osteopenia  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Papilloma  (IAGP)
Paraplegia/paraparesis  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peripheral neuropathy  (IAGP)
Periventricular leukomalacia  (IAGP)
Photophobia  (IAGP)
Pigmentary retinopathy  (IAGP)
Poikiloderma  (IAGP)
Prematurely aged appearance  (IAGP)
Progeroid facial appearance  (IAGP)
Protruding ear  (IAGP)
Psychomotor retardation  (IAGP)
Pterygium  (IAGP)
Recurrent bronchopulmonary infections  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinopathy  (IAGP)
Retrognathia  (IAGP)
Ridged nail  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Sparse scalp hair  (IAGP)
Spasticity  (IAGP)
Split nail  (IAGP)
Squamous cell carcinoma  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Strabismus  (IAGP)
Telangiectasia of the skin  (IAGP)
Thin skin  (IAGP)
Thoracic kyphosis  (IAGP)
Tiger tail banding  (IAGP)
Umbilical hernia  (IAGP)
Urticaria  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. Andressoo JO, etal., Mol Cell Biol. 2009 Mar;29(5):1276-90. doi: 10.1128/MCB.01229-08. Epub 2008 Dec 29.
2. mRNA levels of the hypoxia inducible factor (HIF-1) and DNA repair genes in perinatal asphyxia of the rat. Chiappe-Gutierrez M, etal., Life Sci. 1998;63(13):1157-67.
3. TFIIH: when transcription met DNA repair. Compe E and Egly JM, Nat Rev Mol Cell Biol. 2012 May 10;13(6):343-54. doi: 10.1038/nrm3350.
4. A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor. Egly JM and Coin F, DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17.
5. Increased steady state mRNA levels of DNA-repair genes XRCC1, ERCC2 and ERCC3 in brain of patients with Down syndrome. Fang-Kircher SG, etal., Life Sci. 1999;64(18):1689-99.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Expression of DNA excision-repair-cross-complementing proteins p80 and p89 in brain of patients with Down Syndrome and Alzheimer's disease. Hermon M, etal., Neurosci Lett. 1998 Jul 17;251(1):45-8.
8. Polymorphisms in the two helicases ERCC2/XPD and ERCC3/XPB of the transcription factor IIH complex and risk of lung cancer: a case-control analysis in a Chinese population. Hu Z, etal., Cancer Epidemiol Biomarkers Prev. 2006 Jul;15(7):1336-40.
9. Microarray analysis of hippocampal gene expression in global cerebral ischemia. Jin K, etal., Ann Neurol. 2001 Jul;50(1):93-103.
10. Nucleotide excision repair: new tricks with old bricks. Kamileri I, etal., Trends Genet. 2012 Nov;28(11):566-73. doi: 10.1016/j.tig.2012.06.004. Epub 2012 Jul 22.
11. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Oh KS, etal., Hum Mutat. 2006 Nov;27(11):1092-103.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Pharmacogenetics of the DNA repair pathways in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy. Sullivan I, etal., Cancer Lett. 2014 Oct 28;353(2):160-6. doi: 10.1016/j.canlet.2014.07.023. Epub 2014 Jul 25.
18. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Weeda G, etal., Am J Hum Genet. 1997 Feb;60(2):320-9.
Additional References at PubMed
PMID:1741247   PMID:1916809   PMID:1939271   PMID:1956789   PMID:2111438   PMID:2167179   PMID:2449431   PMID:7663514   PMID:7926747   PMID:8125298   PMID:8152490   PMID:8157004  
PMID:8194528   PMID:8194529   PMID:8202161   PMID:8304337   PMID:8408834   PMID:8521393   PMID:8612585   PMID:8628270   PMID:8652557   PMID:8663148   PMID:8675009   PMID:8692841  
PMID:8692842   PMID:8849451   PMID:8876669   PMID:8934526   PMID:8946909   PMID:9054383   PMID:9118947   PMID:9121429   PMID:9130708   PMID:9173976   PMID:9184228   PMID:9311822  
PMID:9334327   PMID:9400991   PMID:9405375   PMID:9512541   PMID:9570510   PMID:9582279   PMID:9651670   PMID:9765201   PMID:9790902   PMID:9852112   PMID:9874796   PMID:10024882  
PMID:10066804   PMID:10082552   PMID:10214908   PMID:10403766   PMID:10438593   PMID:10447254   PMID:10583946   PMID:10734143   PMID:10801852   PMID:10827951   PMID:10862089   PMID:10866664  
PMID:10924514   PMID:10993082   PMID:11071939   PMID:11259578   PMID:11278765   PMID:11313499   PMID:11335038   PMID:11572868   PMID:12080057   PMID:12372413   PMID:12379483   PMID:12393749  
PMID:12393803   PMID:12477932   PMID:12646563   PMID:12820975   PMID:12865926   PMID:14569024   PMID:14614013   PMID:14702039   PMID:15220921   PMID:15375507   PMID:15489334   PMID:15549133  
PMID:15893730   PMID:16669699   PMID:16710452   PMID:16889989   PMID:16914395   PMID:17081983   PMID:17088560   PMID:17314511   PMID:17438371   PMID:17466626   PMID:17509950   PMID:17614221  
PMID:17643375   PMID:18187620   PMID:18562274   PMID:18676680   PMID:18950845   PMID:19064572   PMID:19106100   PMID:19170196   PMID:19172752   PMID:19237606   PMID:19338310   PMID:19573080  
PMID:19625176   PMID:19692168   PMID:19773279   PMID:19840190   PMID:19934020   PMID:20004634   PMID:20208140   PMID:20211142   PMID:20301571   PMID:20453000   PMID:20496165   PMID:20522537  
PMID:20530579   PMID:20543986   PMID:20813000   PMID:21157430   PMID:21167544   PMID:21516116   PMID:21672525   PMID:21873635   PMID:21971700   PMID:21988832   PMID:22174317   PMID:22234153  
PMID:22615732   PMID:22658674   PMID:22678362   PMID:22902626   PMID:22939629   PMID:23083890   PMID:23382212   PMID:23385459   PMID:23562818   PMID:23602568   PMID:23706737   PMID:23797950  
PMID:24508195   PMID:24609361   PMID:24981860   PMID:25281560   PMID:25416956   PMID:25482373   PMID:25492609   PMID:25620205   PMID:26186194   PMID:26340423   PMID:26344197   PMID:26389662  
PMID:26496610   PMID:26949251   PMID:26972000   PMID:27051024   PMID:27193682   PMID:27384421   PMID:27637333   PMID:27655433   PMID:27684187   PMID:27838878   PMID:28157507   PMID:28474168  
PMID:28514442   PMID:28592488   PMID:28700943   PMID:28813025   PMID:28977422   PMID:29036418   PMID:29117863   PMID:29467282   PMID:29528139   PMID:29568061   PMID:29656893   PMID:30554943  
PMID:30629181   PMID:31091453   PMID:31515488   PMID:31527615   PMID:31832883   PMID:32151798   PMID:32268270   PMID:32296183   PMID:32355176   PMID:32416067   PMID:32434920   PMID:32557569  
PMID:32780723   PMID:32807901   PMID:33060197   PMID:33125943   PMID:33226137   PMID:33381997   PMID:33453189   PMID:33961781   PMID:34108663   PMID:34244565   PMID:34373451   PMID:34795231  
PMID:35271311  


Genomics

Comparative Map Data
ERCC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382127,257,290 - 127,294,144 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2127,257,290 - 127,294,166 (-)EnsemblGRCh38hg38GRCh38
GRCh372128,014,866 - 128,051,720 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362127,731,336 - 127,768,222 (-)NCBINCBI36hg18NCBI36
Build 342127,731,095 - 127,767,982NCBI
Celera2121,326,339 - 121,363,248 (-)NCBI
Cytogenetic Map2q14.3NCBI
HuRef2120,322,147 - 120,359,036 (-)NCBIHuRef
CHM1_12128,019,440 - 128,056,319 (-)NCBICHM1_1
T2T-CHM13v2.02127,692,506 - 127,729,368 (-)NCBI
Ercc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391832,373,357 - 32,403,206 (+)NCBIGRCm39mm39
GRCm39 Ensembl1832,373,353 - 32,403,204 (+)Ensembl
GRCm381832,240,304 - 32,270,151 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1832,240,300 - 32,270,151 (+)EnsemblGRCm38mm10GRCm38
MGSCv371832,399,985 - 32,429,801 (+)NCBIGRCm37mm9NCBIm37
MGSCv361832,383,341 - 32,413,157 (+)NCBImm8
Celera1832,722,096 - 32,752,097 (+)NCBICelera
Cytogenetic Map18B1NCBI
Ercc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21823,883,613 - 23,914,326 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1823,883,580 - 23,914,329 (+)Ensembl
Rnor_6.01825,037,668 - 25,068,380 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1825,037,625 - 25,068,389 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01824,752,960 - 24,783,861 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41824,684,912 - 24,716,143 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11824,711,564 - 24,742,649 (+)NCBI
Celera1823,636,100 - 23,666,812 (+)NCBICelera
Cytogenetic Map18p12NCBI
Ercc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554593,210,479 - 3,242,576 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554593,210,936 - 3,238,401 (+)NCBIChiLan1.0ChiLan1.0
ERCC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B127,922,483 - 127,959,372 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B127,922,483 - 127,959,372 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B32,983,492 - 33,020,492 (+)NCBIMhudiblu_PPA_v0panPan3
ERCC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11923,310,911 - 23,344,083 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1923,310,986 - 23,337,683 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1923,558,376 - 23,591,562 (+)NCBI
ROS_Cfam_1.01924,637,517 - 24,670,735 (+)NCBI
ROS_Cfam_1.0 Ensembl1924,637,573 - 24,670,653 (+)Ensembl
UMICH_Zoey_3.11923,341,076 - 23,374,276 (+)NCBI
UNSW_CanFamBas_1.01923,536,737 - 23,569,970 (+)NCBI
UU_Cfam_GSD_1.01924,667,951 - 24,701,129 (+)NCBI
Ercc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530397,619,300 - 97,647,746 (-)NCBI
SpeTri2.0NW_00493646943,970,002 - 43,998,279 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERCC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1525,189,663 - 25,228,066 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11525,189,644 - 25,224,381 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21528,869,717 - 28,904,073 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ERCC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1102,926,410 - 2,963,802 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl102,926,350 - 2,963,823 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606119,789,937 - 19,827,350 (-)NCBIVero_WHO_p1.0
Ercc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473213,729,947 - 13,776,870 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473213,730,648 - 13,776,886 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D2S2558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,014,952 - 128,015,056UniSTSGRCh37
Build 362127,731,422 - 127,731,526RGDNCBI36
Celera2121,326,425 - 121,326,529RGD
Cytogenetic Map2q21UniSTS
HuRef2120,322,233 - 120,322,337UniSTS
Stanford-G3 RH Map25293.0UniSTS
GeneMap99-GB4 RH Map2458.3UniSTS
Whitehead-RH Map2724.9UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21000.8UniSTS
GeneMap99-G3 RH Map26206.0UniSTS
RH48443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,044,336 - 128,044,479UniSTSGRCh37
Build 362127,760,806 - 127,760,949RGDNCBI36
Celera2121,355,832 - 121,355,975RGD
Cytogenetic Map2q21UniSTS
HuRef2120,351,620 - 120,351,763UniSTS
RH69120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,015,120 - 128,015,283UniSTSGRCh37
Build 362127,731,590 - 127,731,753RGDNCBI36
Celera2121,326,593 - 121,326,756RGD
Cytogenetic Map2q21UniSTS
HuRef2120,322,401 - 120,322,564UniSTS
GeneMap99-GB4 RH Map2458.3UniSTS
NCBI RH Map2998.6UniSTS
SHGC-59959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,026,605 - 128,026,746UniSTSGRCh37
Build 362127,743,075 - 127,743,216RGDNCBI36
Celera2121,338,074 - 121,338,215RGD
Cytogenetic Map2q21UniSTS
HuRef2120,333,886 - 120,334,027UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR192hsa-miR-192-5pOncomiRDBexternal_infoNANA21672525

Predicted Target Of
Summary Value
Count of predictions:3789
Count of miRNA genes:1140
Interacting mature miRNAs:1428
Transcripts:ENST00000285398, ENST00000426778, ENST00000445889, ENST00000456257, ENST00000460485, ENST00000462306, ENST00000490062, ENST00000491292, ENST00000493187, ENST00000494464
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 2420 2515 1564 468 1620 309 4353 2062 3460 341 1447 1605 175 1 1204 2784 5 2
Low 19 476 162 156 331 156 4 135 274 78 13 8 4 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC110926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI222871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY163769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000285398   ⟹   ENSP00000285398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,290 - 127,294,144 (-)Ensembl
RefSeq Acc Id: ENST00000426778   ⟹   ENSP00000415335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,290 - 127,294,145 (-)Ensembl
RefSeq Acc Id: ENST00000445889   ⟹   ENSP00000390888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,297 - 127,294,094 (-)Ensembl
RefSeq Acc Id: ENST00000456257   ⟹   ENSP00000408901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,288,673 - 127,290,275 (-)Ensembl
RefSeq Acc Id: ENST00000460485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,289,376 - 127,290,589 (-)Ensembl
RefSeq Acc Id: ENST00000462306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,289,696 - 127,294,137 (-)Ensembl
RefSeq Acc Id: ENST00000490062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,292,435 - 127,294,153 (-)Ensembl
RefSeq Acc Id: ENST00000491292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,297 - 127,262,882 (-)Ensembl
RefSeq Acc Id: ENST00000494464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,286,749 - 127,294,107 (-)Ensembl
RefSeq Acc Id: ENST00000642308   ⟹   ENSP00000496684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,289,485 - 127,294,166 (-)Ensembl
RefSeq Acc Id: ENST00000642972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,260,765 - 127,279,261 (-)Ensembl
RefSeq Acc Id: ENST00000643982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,288,694 - 127,289,942 (-)Ensembl
RefSeq Acc Id: ENST00000644317   ⟹   ENSP00000494012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,475 - 127,294,098 (-)Ensembl
RefSeq Acc Id: ENST00000645233   ⟹   ENSP00000494116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,303 - 127,294,139 (-)Ensembl
RefSeq Acc Id: ENST00000645467   ⟹   ENSP00000494889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,320 - 127,294,144 (-)Ensembl
RefSeq Acc Id: ENST00000645504   ⟹   ENSP00000495336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,261,228 - 127,286,797 (-)Ensembl
RefSeq Acc Id: ENST00000645736   ⟹   ENSP00000494545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,319 - 127,293,602 (-)Ensembl
RefSeq Acc Id: ENST00000646042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,290 - 127,290,893 (-)Ensembl
RefSeq Acc Id: ENST00000646654   ⟹   ENSP00000494526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,303 - 127,294,145 (-)Ensembl
RefSeq Acc Id: ENST00000647169   ⟹   ENSP00000495619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,296 - 127,294,144 (-)Ensembl
RefSeq Acc Id: ENST00000647496   ⟹   ENSP00000496038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,257,297 - 127,292,653 (-)Ensembl
RefSeq Acc Id: NM_000122   ⟹   NP_000113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,257,290 - 127,294,144 (-)NCBI
GRCh372128,014,866 - 128,051,752 (-)ENTREZGENE
Build 362127,731,336 - 127,768,222 (-)NCBI Archive
HuRef2120,322,147 - 120,359,036 (-)ENTREZGENE
CHM1_12128,019,440 - 128,056,319 (-)NCBI
T2T-CHM13v2.02127,692,506 - 127,729,368 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001303416   ⟹   NP_001290345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,257,290 - 127,294,144 (-)NCBI
CHM1_12128,019,440 - 128,056,237 (-)NCBI
T2T-CHM13v2.02127,692,506 - 127,729,368 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001303418   ⟹   NP_001290347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,257,290 - 127,294,144 (-)NCBI
CHM1_12128,019,440 - 128,056,237 (-)NCBI
T2T-CHM13v2.02127,692,506 - 127,729,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510794   ⟹   XP_011509096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,257,290 - 127,294,144 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510795   ⟹   XP_011509097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,257,290 - 127,293,718 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000113   ⟸   NM_000122
- Peptide Label: isoform a
- UniProtKB: P19447 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290345   ⟸   NM_001303416
- Peptide Label: isoform b
- UniProtKB: B3KRG2 (UniProtKB/TrEMBL),   B3KTH1 (UniProtKB/TrEMBL),   G3V1S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290347   ⟸   NM_001303418
- Peptide Label: isoform b
- UniProtKB: B3KTH1 (UniProtKB/TrEMBL),   G3V1S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509097   ⟸   XM_011510795
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011509096   ⟸   XM_011510794
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000415335   ⟸   ENST00000426778
RefSeq Acc Id: ENSP00000408901   ⟸   ENST00000456257
RefSeq Acc Id: ENSP00000285398   ⟸   ENST00000285398
RefSeq Acc Id: ENSP00000390888   ⟸   ENST00000445889
RefSeq Acc Id: ENSP00000496684   ⟸   ENST00000642308
RefSeq Acc Id: ENSP00000494012   ⟸   ENST00000644317
RefSeq Acc Id: ENSP00000494545   ⟸   ENST00000645736
RefSeq Acc Id: ENSP00000495336   ⟸   ENST00000645504
RefSeq Acc Id: ENSP00000494889   ⟸   ENST00000645467
RefSeq Acc Id: ENSP00000494116   ⟸   ENST00000645233
RefSeq Acc Id: ENSP00000494526   ⟸   ENST00000646654
RefSeq Acc Id: ENSP00000495619   ⟸   ENST00000647169
RefSeq Acc Id: ENSP00000496038   ⟸   ENST00000647496
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19447-F1-model_v2 AlphaFold P19447 1-782 view protein structure

Promoters
RGD ID:6861476
Promoter ID:EPDNEW_H3903
Type:initiation region
Name:ERCC3_2
Description:ERCC excision repair 3, TFIIH core complex helicase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3904  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,293,632 - 127,293,692EPDNEW
RGD ID:6861478
Promoter ID:EPDNEW_H3904
Type:initiation region
Name:ERCC3_1
Description:ERCC excision repair 3, TFIIH core complex helicase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3903  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,294,144 - 127,294,204EPDNEW
RGD ID:6797441
Promoter ID:HG_KWN:34849
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000331037,   OTTHUMT00000331038,   OTTHUMT00000331040,   OTTHUMT00000331041,   OTTHUMT00000331042,   OTTHUMT00000331043,   UC002TOE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362127,763,904 - 127,764,404 (-)MPROMDB
RGD ID:6853374
Promoter ID:EP74512
Type:initiation region
Name:HS_ERCC3
Description:Excision repair cross-complementing rodent repair deficiency, 3 Blementation group 3 (xeroderma pigmentosum group B complementing).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362127,767,678 - 127,767,738EPD
RGD ID:6797445
Promoter ID:HG_KWN:34851
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000122,   OTTHUMT00000331032,   OTTHUMT00000331034,   OTTHUMT00000331035,   UC002TOG.1,   UC010FLX.1,   UC010FLY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362127,767,986 - 127,768,486 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) duplication Xeroderma pigmentosum [RCV002255296]|Xeroderma pigmentosum group B [RCV000018055]|not provided [RCV000482017]|not specified [RCV000120802] Chr2:127280552..127280553 [GRCh38]
Chr2:128038128..128038129 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic|not provided
NM_000122.2(ERCC3):c.2218-6C>A single nucleotide variant Xeroderma pigmentosum group B [RCV000018050] Chr2:127257733 [GRCh38]
Chr2:128015309 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) single nucleotide variant Xeroderma pigmentosum group B [RCV000018051] Chr2:127292785 [GRCh38]
Chr2:128050361 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) single nucleotide variant Trichothiodystrophy 2, photosensitive [RCV000018052] Chr2:127292726 [GRCh38]
Chr2:128050302 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) single nucleotide variant Xeroderma pigmentosum group B [RCV000018053]|not provided [RCV001851900] Chr2:127286772 [GRCh38]
Chr2:128044348 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) deletion Xeroderma pigmentosum group B [RCV000018054] Chr2:127289349..127289350 [GRCh38]
Chr2:128046925..128046926 [GRCh37]
Chr2:2q14.3
pathogenic
ERCC3, 1-BP INS, 1421A insertion Xeroderma pigmentosum, complementation group b [RCV000018055] Chr2:2q21 pathogenic
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) single nucleotide variant Xeroderma pigmentosum group B [RCV000018056] Chr2:127279270 [GRCh38]
Chr2:128036846 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.471+1G>A single nucleotide variant Xeroderma pigmentosum group B [RCV000018057] Chr2:127292609 [GRCh38]
Chr2:128050185 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.796_797del (p.Gln266fs) microsatellite Xeroderma pigmentosum group B [RCV000778562] Chr2:127289362..127289363 [GRCh38]
Chr2:128046938..128046939 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1929G>T (p.Val643=) single nucleotide variant Xeroderma pigmentosum group B [RCV000305009]|not provided [RCV000908742] Chr2:127271352 [GRCh38]
Chr2:128028928 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3
pathogenic
GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 copy number loss See cases [RCV000054059] Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3
pathogenic
GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 copy number loss See cases [RCV000054060] Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3
pathogenic
NM_000122.1(ERCC3):c.962A>G (p.Glu321Gly) single nucleotide variant Malignant melanoma [RCV000065047] Chr2:127288725 [GRCh38]
Chr2:128046301 [GRCh37]
Chr2:127762771 [NCBI36]
Chr2:2q14.3
not provided
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys) single nucleotide variant Xeroderma pigmentosum [RCV002258798]|not provided [RCV001462857]|not specified [RCV000120790] Chr2:127261332 [GRCh38]
Chr2:128018908 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance|not provided
NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn) single nucleotide variant Trichothiodystrophy 2, photosensitive [RCV001788035]|not provided [RCV001854617]|not specified [RCV000120791] Chr2:127261296 [GRCh38]
Chr2:128018872 [GRCh37]
Chr2:2q14.3
uncertain significance|not provided
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) single nucleotide variant Xeroderma pigmentosum [RCV002257424]|Xeroderma pigmentosum group B [RCV000986805]|not provided [RCV000861013]|not specified [RCV000120792] Chr2:127259402 [GRCh38]
Chr2:128016978 [GRCh37]
Chr2:2q14.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000122.2(ERCC3):c.2182G>A (p.Val728Met) single nucleotide variant not specified [RCV000120793] Chr2:127259331 [GRCh38]
Chr2:128016907 [GRCh37]
Chr2:2q14.3
not provided
NM_000122.2(ERCC3):c.2207G>T (p.Arg736Ile) single nucleotide variant not provided [RCV001854618]|not specified [RCV000120794] Chr2:127259306 [GRCh38]
Chr2:128016882 [GRCh37]
Chr2:2q14.3
uncertain significance|not provided
NM_000122.2(ERCC3):c.2303C>T (p.Ala768Val) single nucleotide variant not provided [RCV001854619]|not specified [RCV000120795] Chr2:127257642 [GRCh38]
Chr2:128015218 [GRCh37]
Chr2:2q14.3
uncertain significance|not provided
NM_000122.2(ERCC3):c.172G>A (p.Ala58Thr) single nucleotide variant not specified [RCV000120796] Chr2:127293575 [GRCh38]
Chr2:128051151 [GRCh37]
Chr2:2q14.3
not provided
NM_000122.2(ERCC3):c.307A>G (p.Ile103Val) single nucleotide variant not specified [RCV000120797] Chr2:127292774 [GRCh38]
Chr2:128050350 [GRCh37]
Chr2:2q14.3
not provided
NM_000122.2(ERCC3):c.350A>G (p.Lys117Arg) single nucleotide variant not provided [RCV001854620]|not specified [RCV000120798] Chr2:127292731 [GRCh38]
Chr2:128050307 [GRCh37]
Chr2:2q14.3
uncertain significance|not provided
NM_000122.2(ERCC3):c.682G>C (p.Gly228Arg) single nucleotide variant not specified [RCV000120799] Chr2:127289477 [GRCh38]
Chr2:128047053 [GRCh37]
Chr2:2q14.3
not provided
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) single nucleotide variant Trichothiodystrophy 2, photosensitive [RCV001294157]|Xeroderma pigmentosum [RCV002257425]|Xeroderma pigmentosum group B [RCV000765502]|Xeroderma pigmentosum group B [RCV001129472]|not provided [RCV001362006]|not specified [RCV000120800] Chr2:127288840 [GRCh38]
Chr2:128046416 [GRCh37]
Chr2:2q14.3
uncertain significance|not provided
NM_000122.2(ERCC3):c.1333A>T (p.Thr445Ser) single nucleotide variant not provided [RCV001854621]|not specified [RCV000120801] Chr2:127286712 [GRCh38]
Chr2:128044288 [GRCh37]
Chr2:2q14.3
uncertain significance|not provided
NM_000122.2(ERCC3):c.1731-11T>C single nucleotide variant Xeroderma pigmentosum group B [RCV000362103]|not provided [RCV002057568] Chr2:127272972 [GRCh38]
Chr2:128030548 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.1731-251T>G single nucleotide variant not provided [RCV001545548] Chr2:127273212 [GRCh38]
Chr2:128030788 [GRCh37]
Chr2:2q14.3
likely benign
GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 copy number loss See cases [RCV000135455] Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3
pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1
pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 copy number loss See cases [RCV000137467] Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1
likely pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 copy number gain See cases [RCV000138369] Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1
uncertain significance
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 copy number loss See cases [RCV000141584] Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3
pathogenic
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=) single nucleotide variant Xeroderma pigmentosum [RCV000407654]|not provided [RCV002057569] Chr2:127292802 [GRCh38]
Chr2:128050378 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.822+14C>T single nucleotide variant Xeroderma pigmentosum group B [RCV000388395]|not provided [RCV001464767] Chr2:127289323 [GRCh38]
Chr2:128046899 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=) single nucleotide variant Xeroderma pigmentosum [RCV002255366]|Xeroderma pigmentosum group B [RCV000402887]|not provided [RCV000963605] Chr2:127259401 [GRCh38]
Chr2:128016977 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) single nucleotide variant Xeroderma pigmentosum [RCV002256208]|Xeroderma pigmentosum group B [RCV000404854]|not provided [RCV001366056] Chr2:127259433 [GRCh38]
Chr2:128017009 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) single nucleotide variant Xeroderma pigmentosum [RCV002255367]|Xeroderma pigmentosum group B [RCV000303849] Chr2:127280603 [GRCh38]
Chr2:128038179 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.657+15G>A single nucleotide variant Xeroderma pigmentosum group B [RCV000294077] Chr2:127289674 [GRCh38]
Chr2:128047250 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) single nucleotide variant Xeroderma pigmentosum [RCV002256207]|Xeroderma pigmentosum group B [RCV000301311]|not provided [RCV002057567] Chr2:127259407 [GRCh38]
Chr2:128016983 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) single nucleotide variant Xeroderma pigmentosum [RCV002255368]|Xeroderma pigmentosum group B [RCV000263793]|not provided [RCV000908712] Chr2:127286890 [GRCh38]
Chr2:128044466 [GRCh37]
Chr2:2q14.3
benign|likely benign|uncertain significance
NM_000122.2(ERCC3):c.254T>G (p.Phe85Cys) single nucleotide variant Xeroderma pigmentosum group B [RCV000287017]|not provided [RCV001850776] Chr2:127292827 [GRCh38]
Chr2:128050403 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) single nucleotide variant Trichothiodystrophy 2, photosensitive [RCV001828326]|Xeroderma pigmentosum [RCV002256209]|Xeroderma pigmentosum group B [RCV000290626]|not provided [RCV001859962] Chr2:127292696 [GRCh38]
Chr2:128050272 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) single nucleotide variant Xeroderma pigmentosum group B [RCV000267438]|not provided [RCV000946634] Chr2:127280489 [GRCh38]
Chr2:128038065 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000122.2(ERCC3):c.1027+3A>G single nucleotide variant Xeroderma pigmentosum group B [RCV000260209]|not provided [RCV000711619] Chr2:127288657 [GRCh38]
Chr2:128046233 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000122.2(ERCC3):c.615G>A (p.Glu205=) single nucleotide variant Xeroderma pigmentosum group B [RCV000384967]|not provided [RCV000963793] Chr2:127289731 [GRCh38]
Chr2:128047307 [GRCh37]
Chr2:2q14.3
benign|uncertain significance
NM_000122.2(ERCC3):c.1078C>T (p.Arg360Cys) single nucleotide variant Xeroderma pigmentosum group B [RCV000373572]|not provided [RCV001372395] Chr2:127286967 [GRCh38]
Chr2:128044543 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) single nucleotide variant Xeroderma pigmentosum group B [RCV000318857]|not provided [RCV000860904] Chr2:127286926 [GRCh38]
Chr2:128044502 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000122.2(ERCC3):c.1156G>A (p.Asp386Asn) single nucleotide variant Xeroderma pigmentosum group B [RCV000358594] Chr2:127286889 [GRCh38]
Chr2:128044465 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.618C>T (p.Ala206=) single nucleotide variant Xeroderma pigmentosum group B [RCV000330405]|not provided [RCV000896796] Chr2:127289728 [GRCh38]
Chr2:128047304 [GRCh37]
Chr2:2q14.3
benign|uncertain significance
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) single nucleotide variant Xeroderma pigmentosum [RCV002257645]|Xeroderma pigmentosum group B [RCV000334035] Chr2:127288661 [GRCh38]
Chr2:128046237 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val) single nucleotide variant Xeroderma pigmentosum [RCV000339981]|not provided [RCV001338905] Chr2:127259408 [GRCh38]
Chr2:128016984 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.29-15G>T single nucleotide variant Xeroderma pigmentosum group B [RCV000341619]|not provided [RCV002057570] Chr2:127293733 [GRCh38]
Chr2:128051309 [GRCh37]
Chr2:2q14.3
benign|likely benign|uncertain significance
NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) single nucleotide variant Trichothiodystrophy 2, photosensitive [RCV001294155]|Xeroderma pigmentosum group B [RCV000345555]|not provided [RCV001859963] Chr2:127292722 [GRCh38]
Chr2:128050298 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.*106T>C single nucleotide variant Xeroderma pigmentosum group B [RCV000278999]|not provided [RCV001590970] Chr2:127257490 [GRCh38]
Chr2:128015066 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) single nucleotide variant Xeroderma pigmentosum [RCV001175535]|Xeroderma pigmentosum group B [RCV000986812]|not provided [RCV000255849] Chr2:127292756 [GRCh38]
Chr2:128050332 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000122.2(ERCC3):c.-19C>T single nucleotide variant Xeroderma pigmentosum group B [RCV000301939] Chr2:127294100 [GRCh38]
Chr2:128051676 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.*29C>T single nucleotide variant Xeroderma pigmentosum group B [RCV000336428]|not provided [RCV001552569] Chr2:127257567 [GRCh38]
Chr2:128015143 [GRCh37]
Chr2:2q14.3
benign|likely benign|uncertain significance
NM_000122.1(ERCC3):c.-69C>T single nucleotide variant Xeroderma pigmentosum group B [RCV000356723]|not provided [RCV001539980] Chr2:127294150 [GRCh38]
Chr2:128051726 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000122.2(ERCC3):c.*259G>A single nucleotide variant Xeroderma pigmentosum group B [RCV000294126]|not provided [RCV001683327] Chr2:127257337 [GRCh38]
Chr2:128014913 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000122.2(ERCC3):c.*177A>G single nucleotide variant Xeroderma pigmentosum group B [RCV000389520] Chr2:127257419 [GRCh38]
Chr2:128014995 [GRCh37]
Chr2:2q14.3
benign|uncertain significance
NM_000122.2(ERCC3):c.*242dup duplication Xeroderma pigmentosum [RCV000351335] Chr2:127257353..127257354 [GRCh38]
Chr2:128014929..128014930 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2120A>G (p.Glu707Gly) single nucleotide variant not provided [RCV001760463] Chr2:127259393 [GRCh38]
Chr2:128016969 [GRCh37]
Chr2:2q14.3
uncertain significance
Single allele deletion See cases [RCV001568390] Chr2:124348648..129410245 [GRCh38]
Chr2:2q14.3-21.1
not provided
NM_000122.2(ERCC3):c.28+8G>A single nucleotide variant Xeroderma pigmentosum group B [RCV000405663] Chr2:127294046 [GRCh38]
Chr2:128051622 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.1(ERCC3):c.-98A>G single nucleotide variant Xeroderma pigmentosum [RCV000374936] Chr2:127294179 [GRCh38]
Chr2:128051755 [GRCh37]
Chr2:2q14.3
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
NM_000122.2(ERCC3):c.658-7C>G single nucleotide variant Xeroderma pigmentosum [RCV002256408]|Xeroderma pigmentosum group B [RCV001764724]|not provided [RCV001480670]|not specified [RCV000612099] Chr2:127289508 [GRCh38]
Chr2:128047084 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000122.2(ERCC3):c.2064+334_2064+343del microsatellite not provided [RCV001541384] Chr2:127260885..127260894 [GRCh38]
Chr2:128018461..128018470 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.2203T>C (p.Ser735Pro) single nucleotide variant not provided [RCV000940515] Chr2:127259310 [GRCh38]
Chr2:128016886 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1528-192C>A single nucleotide variant not provided [RCV001691265] Chr2:127279567 [GRCh38]
Chr2:128037143 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.472-99G>T single nucleotide variant not provided [RCV001681428] Chr2:127290372 [GRCh38]
Chr2:128047948 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.823-108G>T single nucleotide variant not provided [RCV001648659] Chr2:127288972 [GRCh38]
Chr2:128046548 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1291A>C (p.Lys431Gln) single nucleotide variant Xeroderma pigmentosum group B [RCV001766807]|not provided [RCV000991968] Chr2:127286754 [GRCh38]
Chr2:128044330 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1827+267C>T single nucleotide variant not provided [RCV001551462] Chr2:127272598 [GRCh38]
Chr2:128030174 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.29-87C>T single nucleotide variant not provided [RCV001551810] Chr2:127293805 [GRCh38]
Chr2:128051381 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.823-177G>T single nucleotide variant not provided [RCV001585083] Chr2:127289041 [GRCh38]
Chr2:128046617 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1342+157del deletion not provided [RCV001577952] Chr2:127286546 [GRCh38]
Chr2:128044122 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser) single nucleotide variant Xeroderma pigmentosum group B [RCV001133016] Chr2:127259433 [GRCh38]
Chr2:128017009 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) single nucleotide variant Xeroderma pigmentosum group B [RCV000986806] Chr2:127271348 [GRCh38]
Chr2:128028924 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) single nucleotide variant Xeroderma pigmentosum group B [RCV000986811]|not provided [RCV001858655] Chr2:127292621 [GRCh38]
Chr2:128050197 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) single nucleotide variant Xeroderma pigmentosum [RCV002259043]|Xeroderma pigmentosum group B [RCV001132079]|not provided [RCV000882310] Chr2:127257719 [GRCh38]
Chr2:128015295 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.1410C>G (p.Leu470=) single nucleotide variant not provided [RCV000903338] Chr2:127280564 [GRCh38]
Chr2:128038140 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.384C>T (p.Ser128=) single nucleotide variant not provided [RCV000914876] Chr2:127292697 [GRCh38]
Chr2:128050273 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1509C>T (p.Ala503=) single nucleotide variant not provided [RCV000928982] Chr2:127280465 [GRCh38]
Chr2:128038041 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1920A>G (p.Leu640=) single nucleotide variant not provided [RCV000924546] Chr2:127271361 [GRCh38]
Chr2:128028937 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs) deletion Xeroderma pigmentosum group B [RCV000779279]|not provided [RCV001856170] Chr2:127272934..127272935 [GRCh38]
Chr2:128030510..128030511 [GRCh37]
Chr2:2q14.3
pathogenic|uncertain significance
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) single nucleotide variant Xeroderma pigmentosum group B [RCV000770819] Chr2:127289763 [GRCh38]
Chr2:128047339 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.1008G>A (p.Gly336=) single nucleotide variant Xeroderma pigmentosum [RCV002255547]|not provided [RCV000861115] Chr2:127288679 [GRCh38]
Chr2:128046255 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000122.2(ERCC3):c.2334G>A (p.Lys778=) single nucleotide variant Xeroderma pigmentosum [RCV002255570]|not provided [RCV000893880] Chr2:127257611 [GRCh38]
Chr2:128015187 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1887dup (p.Gly630fs) duplication Xeroderma pigmentosum group B [RCV000779278] Chr2:127271393..127271394 [GRCh38]
Chr2:128028969..128028970 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1700C>T (p.Ala567Val) single nucleotide variant Xeroderma pigmentosum group B [RCV001766813]|not provided [RCV000997198] Chr2:127279203 [GRCh38]
Chr2:128036779 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1828-35C>T single nucleotide variant Xeroderma pigmentosum group B [RCV000986809] Chr2:127271488 [GRCh38]
Chr2:128029064 [GRCh37]
Chr2:2q14.3
benign
GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1 copy number loss not provided [RCV001005309] Chr2:118872395..128069813 [GRCh37]
Chr2:2q14.2-14.3
pathogenic
NM_000122.2(ERCC3):c.1828-32A>T single nucleotide variant Xeroderma pigmentosum group B [RCV000986807] Chr2:127271485 [GRCh38]
Chr2:128029061 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1828-33C>T single nucleotide variant Xeroderma pigmentosum group B [RCV000986808] Chr2:127271486 [GRCh38]
Chr2:128029062 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1182C>T (p.Ser394=) single nucleotide variant Xeroderma pigmentosum group B [RCV001136454]|not provided [RCV002070587] Chr2:127286863 [GRCh38]
Chr2:128044439 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) single nucleotide variant Xeroderma pigmentosum [RCV002256688]|Xeroderma pigmentosum group B [RCV001133018] Chr2:127271370 [GRCh38]
Chr2:128028946 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) single nucleotide variant Trichothiodystrophy 2, photosensitive [RCV001294156]|not provided [RCV000894918] Chr2:127292664 [GRCh38]
Chr2:128050240 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.1335C>T (p.Thr445=) single nucleotide variant Xeroderma pigmentosum group B [RCV001136453]|not provided [RCV000964873] Chr2:127286710 [GRCh38]
Chr2:128044286 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.2172C>T (p.Ala724=) single nucleotide variant not provided [RCV000894124] Chr2:127259341 [GRCh38]
Chr2:128016917 [GRCh37]
Chr2:2q14.3
likely benign
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 copy number loss See cases [RCV001194541] Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2
likely pathogenic
NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile) single nucleotide variant Xeroderma pigmentosum group B [RCV001136452]|not provided [RCV001301220] Chr2:127280563 [GRCh38]
Chr2:128038139 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) single nucleotide variant Xeroderma pigmentosum [RCV002258141]|Xeroderma pigmentosum group B [RCV001133122]|not provided [RCV001873529] Chr2:127293603 [GRCh38]
Chr2:128051179 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2187G>A (p.Val729=) single nucleotide variant not provided [RCV000936682] Chr2:127259326 [GRCh38]
Chr2:128016902 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) single nucleotide variant not provided [RCV000997199] Chr2:127279315 [GRCh38]
Chr2:128036891 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000122.2(ERCC3):c.1152T>C (p.Ile384=) single nucleotide variant Xeroderma pigmentosum group B [RCV001129469] Chr2:127286893 [GRCh38]
Chr2:128044469 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.-31G>A single nucleotide variant Xeroderma pigmentosum group B [RCV001133124] Chr2:127294112 [GRCh38]
Chr2:128051688 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.*83C>T single nucleotide variant Xeroderma pigmentosum group B [RCV001132078] Chr2:127257513 [GRCh38]
Chr2:128015089 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1731-148A>C single nucleotide variant not provided [RCV001571393] Chr2:127273109 [GRCh38]
Chr2:128030685 [GRCh37]
Chr2:2q14.3
likely benign
Single allele single nucleotide variant not provided [RCV001663172] Chr2:127294421 [GRCh38]
Chr2:128051997 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.2218-64G>A single nucleotide variant not provided [RCV001690463] Chr2:127257791 [GRCh38]
Chr2:128015367 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1731-196G>A single nucleotide variant not provided [RCV001584973] Chr2:127273157 [GRCh38]
Chr2:128030733 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1528-9G>A single nucleotide variant Xeroderma pigmentosum [RCV002256592]|not provided [RCV000907754] Chr2:127279384 [GRCh38]
Chr2:128036960 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.2218-5G>A single nucleotide variant Xeroderma pigmentosum [RCV002255546]|Xeroderma pigmentosum group B [RCV001132081]|not provided [RCV000860911] Chr2:127257732 [GRCh38]
Chr2:128015308 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000122.2(ERCC3):c.1743C>T (p.Tyr581=) single nucleotide variant not provided [RCV000980534] Chr2:127272949 [GRCh38]
Chr2:128030525 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1924C>A (p.Arg642=) single nucleotide variant not provided [RCV000899543] Chr2:127271357 [GRCh38]
Chr2:128028933 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg) single nucleotide variant Xeroderma pigmentosum group B [RCV001129471]|not provided [RCV001856686] Chr2:127286969 [GRCh38]
Chr2:128044545 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2218-6C>T single nucleotide variant Xeroderma pigmentosum [RCV002256615]|Xeroderma pigmentosum group B [RCV001132082]|not provided [RCV000935765] Chr2:127257733 [GRCh38]
Chr2:128015309 [GRCh37]
Chr2:2q14.3
benign|likely benign|uncertain significance
NM_000122.2(ERCC3):c.1828-36C>T single nucleotide variant Xeroderma pigmentosum group B [RCV000986810] Chr2:127271489 [GRCh38]
Chr2:128029065 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1731-59T>G single nucleotide variant not provided [RCV001562428] Chr2:127273020 [GRCh38]
Chr2:128030596 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1945+120A>G single nucleotide variant not provided [RCV001637175] Chr2:127271216 [GRCh38]
Chr2:128028792 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.2065-267A>G single nucleotide variant not provided [RCV001557474] Chr2:127259715 [GRCh38]
Chr2:128017291 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1497T>C (p.Asn499_Gly500=) single nucleotide variant Xeroderma pigmentosum [RCV002255848] Chr2:127280477 [GRCh38]
Chr2:128038053 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.122C>T (p.Ala41Val) single nucleotide variant Xeroderma pigmentosum [RCV002257075] Chr2:127293625 [GRCh38]
Chr2:128051201 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1343-10G>C single nucleotide variant Xeroderma pigmentosum [RCV002257076] Chr2:127280641 [GRCh38]
Chr2:128038217 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.472-10G>A single nucleotide variant Xeroderma pigmentosum [RCV002257082] Chr2:127290283 [GRCh38]
Chr2:128047859 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1527+269G>T single nucleotide variant not provided [RCV001566081] Chr2:127280178 [GRCh38]
Chr2:128037754 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.2248A>C (p.Met750Leu) single nucleotide variant not provided [RCV001550529] Chr2:127257697 [GRCh38]
Chr2:128015273 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.472-293G>A single nucleotide variant not provided [RCV001636455] Chr2:127290566 [GRCh38]
Chr2:128048142 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.471+118G>A single nucleotide variant not provided [RCV001621455] Chr2:127292492 [GRCh38]
Chr2:128050068 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1828-37del deletion not provided [RCV001595574] Chr2:127271490 [GRCh38]
Chr2:128029066 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.2064+282A>G single nucleotide variant not provided [RCV001656103] Chr2:127260946 [GRCh38]
Chr2:128018522 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.472-200G>A single nucleotide variant not provided [RCV001594058] Chr2:127290473 [GRCh38]
Chr2:128048049 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1827+64A>G single nucleotide variant not provided [RCV001658420] Chr2:127272801 [GRCh38]
Chr2:128030377 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.235-61A>G single nucleotide variant not provided [RCV001608850] Chr2:127292907 [GRCh38]
Chr2:128050483 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1027+269G>A single nucleotide variant not provided [RCV001594318] Chr2:127288391 [GRCh38]
Chr2:128045967 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1528-250C>T single nucleotide variant not provided [RCV001637702] Chr2:127279625 [GRCh38]
Chr2:128037201 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.2218-91G>A single nucleotide variant not provided [RCV001637818] Chr2:127257818 [GRCh38]
Chr2:128015394 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.235-215A>G single nucleotide variant not provided [RCV001548703] Chr2:127293061 [GRCh38]
Chr2:128050637 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1110T>C (p.Ser370=) single nucleotide variant Xeroderma pigmentosum group B [RCV001129470] Chr2:127286935 [GRCh38]
Chr2:128044511 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.*220G>C single nucleotide variant Xeroderma pigmentosum group B [RCV001129361] Chr2:127257376 [GRCh38]
Chr2:128014952 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.*138G>C single nucleotide variant Xeroderma pigmentosum group B [RCV001129362] Chr2:127257458 [GRCh38]
Chr2:128015034 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1730+266C>T single nucleotide variant not provided [RCV001610947] Chr2:127278907 [GRCh38]
Chr2:128036483 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1342+231C>A single nucleotide variant not provided [RCV001691730] Chr2:127286472 [GRCh38]
Chr2:128044048 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.471+52A>G single nucleotide variant not provided [RCV001644470] Chr2:127292558 [GRCh38]
Chr2:128050134 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.471+186T>C single nucleotide variant not provided [RCV001685678] Chr2:127292424 [GRCh38]
Chr2:128050000 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg) single nucleotide variant not provided [RCV001051064] Chr2:127293715 [GRCh38]
Chr2:128051291 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.32A>T (p.Lys11Met) single nucleotide variant not provided [RCV001051065] Chr2:127293715 [GRCh38]
Chr2:128051291 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp) single nucleotide variant Xeroderma pigmentosum group B [RCV001132080]|not provided [RCV001856706] Chr2:127257721 [GRCh38]
Chr2:128015297 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.529G>A (p.Val177Ile) single nucleotide variant Xeroderma pigmentosum group B [RCV001132191] Chr2:127289817 [GRCh38]
Chr2:128047393 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) single nucleotide variant Xeroderma pigmentosum [RCV002258139]|Xeroderma pigmentosum group B [RCV001132192]|not provided [RCV001308354] Chr2:127292767 [GRCh38]
Chr2:128050343 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) single nucleotide variant Xeroderma pigmentosum [RCV002258140]|Xeroderma pigmentosum group B [RCV001133015]|not provided [RCV001873528] Chr2:127259426 [GRCh38]
Chr2:128017002 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1986G>A (p.Leu662=) single nucleotide variant Xeroderma pigmentosum group B [RCV001133017] Chr2:127261306 [GRCh38]
Chr2:128018882 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg) single nucleotide variant Xeroderma pigmentosum group B [RCV001133123] Chr2:127293616 [GRCh38]
Chr2:128051192 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) duplication not provided [RCV001090271] Chr2:127272929..127272930 [GRCh38]
Chr2:128030505..128030506 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000122.2(ERCC3):c.1854G>A (p.Pro618=) single nucleotide variant Xeroderma pigmentosum [RCV002258204]|not provided [RCV001326876] Chr2:127271427 [GRCh38]
Chr2:128029003 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2026C>T (p.Arg676Trp) single nucleotide variant not provided [RCV001305476] Chr2:127261266 [GRCh38]
Chr2:128018842 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1540A>G (p.Met514Val) single nucleotide variant not provided [RCV001325521] Chr2:127279363 [GRCh38]
Chr2:128036939 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) deletion Xeroderma pigmentosum [RCV002256755]|not provided [RCV001382841] Chr2:127272935 [GRCh38]
Chr2:128030511 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000122.2(ERCC3):c.471+4A>G single nucleotide variant not provided [RCV001309455] Chr2:127292606 [GRCh38]
Chr2:128050182 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2285A>G (p.His762Arg) single nucleotide variant not provided [RCV001321907] Chr2:127257660 [GRCh38]
Chr2:128015236 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.657C>T (p.Ala219=) single nucleotide variant not provided [RCV001306362] Chr2:127289689 [GRCh38]
Chr2:128047265 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1342+19A>G single nucleotide variant not provided [RCV001504401] Chr2:127286684 [GRCh38]
Chr2:128044260 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.336T>C (p.His112=) single nucleotide variant not provided [RCV001454085] Chr2:127292745 [GRCh38]
Chr2:128050321 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) single nucleotide variant Xeroderma pigmentosum group B [RCV001523810]|not provided [RCV001871730] Chr2:127280620 [GRCh38]
Chr2:128038196 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000122.2(ERCC3):c.1410C>T (p.Leu470=) single nucleotide variant not provided [RCV001482038] Chr2:127280564 [GRCh38]
Chr2:128038140 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1053G>C (p.Val351=) single nucleotide variant Xeroderma pigmentosum [RCV002256789]|not provided [RCV001473594] Chr2:127286992 [GRCh38]
Chr2:128044568 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1946-256C>G single nucleotide variant not provided [RCV001615534] Chr2:127261602 [GRCh38]
Chr2:128019178 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.658-24G>C single nucleotide variant not provided [RCV001652730] Chr2:127289525 [GRCh38]
Chr2:128047101 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.862del (p.Glu288fs) deletion not provided [RCV001384575] Chr2:127288825 [GRCh38]
Chr2:128046401 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.662C>T (p.Ser221Phe) single nucleotide variant Xeroderma pigmentosum [RCV002258485] Chr2:127289497 [GRCh38]
Chr2:128047073 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.500A>G (p.Lys167Arg) single nucleotide variant Xeroderma pigmentosum group B [RCV001761675] Chr2:127290245 [GRCh38]
Chr2:128047821 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.822+5G>A single nucleotide variant Xeroderma pigmentosum group B [RCV001761674] Chr2:127289332 [GRCh38]
Chr2:128046908 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) single nucleotide variant Xeroderma pigmentosum [RCV002256834]|Xeroderma pigmentosum group B [RCV001761906]|not provided [RCV001868796] Chr2:127279354 [GRCh38]
Chr2:128036930 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2259C>T (p.Ala753=) single nucleotide variant Xeroderma pigmentosum group B [RCV001761902] Chr2:127257686 [GRCh38]
Chr2:128015262 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1130A>T (p.Gln377Leu) single nucleotide variant Xeroderma pigmentosum group B [RCV001761909] Chr2:127286915 [GRCh38]
Chr2:128044491 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1635G>A (p.Gln545_Phe546=) single nucleotide variant Xeroderma pigmentosum [RCV002255849] Chr2:127279268 [GRCh38]
Chr2:128036844 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1904A>G (p.Gln635Arg) single nucleotide variant Xeroderma pigmentosum [RCV002257077] Chr2:127271377 [GRCh38]
Chr2:128028953 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2248A>G (p.Met750Val) single nucleotide variant Xeroderma pigmentosum [RCV002257079] Chr2:127257697 [GRCh38]
Chr2:128015273 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.637A>G (p.Thr213Ala) single nucleotide variant Xeroderma pigmentosum [RCV002257083] Chr2:127289709 [GRCh38]
Chr2:128047285 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.593G>A (p.Arg198His) single nucleotide variant not provided [RCV001758540] Chr2:127289753 [GRCh38]
Chr2:128047329 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1947G>A (p.Gly649_Met650=) single nucleotide variant Xeroderma pigmentosum [RCV002257078] Chr2:127261345 [GRCh38]
Chr2:128018921 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.411C>G (p.Thr137_Glu138=) single nucleotide variant Xeroderma pigmentosum [RCV002257081] Chr2:127292670 [GRCh38]
Chr2:128050246 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1297C>G (p.Gln433Glu) single nucleotide variant Xeroderma pigmentosum [RCV002258482] Chr2:127286748 [GRCh38]
Chr2:128044324 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.386T>C (p.Val129Ala) single nucleotide variant Xeroderma pigmentosum [RCV002258484] Chr2:127292695 [GRCh38]
Chr2:128050271 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1559G>A (p.Arg520Gln) single nucleotide variant Xeroderma pigmentosum group B [RCV001761905] Chr2:127279344 [GRCh38]
Chr2:128036920 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1900C>T (p.Arg634Cys) single nucleotide variant Xeroderma pigmentosum group B [RCV001761903] Chr2:127271381 [GRCh38]
Chr2:128028957 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu) single nucleotide variant Trichothiodystrophy 2, photosensitive [RCV001788989] Chr2:127280517 [GRCh38]
Chr2:128038093 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.31A>G (p.Lys11Glu) single nucleotide variant not provided [RCV001767228] Chr2:127293716 [GRCh38]
Chr2:128051292 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) single nucleotide variant Xeroderma pigmentosum group B [RCV001761908]|not provided [RCV001780443] Chr2:127286883 [GRCh38]
Chr2:128044459 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.1015G>T (p.Val339Phe) single nucleotide variant Xeroderma pigmentosum group B [RCV001761910] Chr2:127288672 [GRCh38]
Chr2:128046248 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1895C>T (p.Ser632Phe) single nucleotide variant Xeroderma pigmentosum group B [RCV001761904] Chr2:127271386 [GRCh38]
Chr2:128028962 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1385_1386del (p.His461_Cys462insTer) deletion not provided [RCV001783206] Chr2:127280588..127280589 [GRCh38]
Chr2:128038164..128038165 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) duplication not provided [RCV001822132] Chr2:127286924..127286925 [GRCh38]
Chr2:128044500..128044501 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
GRCh37/hg19 2q13-14.3(chr2:113188197-128144700) copy number loss not specified [RCV002053220] Chr2:113188197..128144700 [GRCh37]
Chr2:2q13-14.3
pathogenic
NM_000122.2(ERCC3):c.521+3A>C single nucleotide variant not provided [RCV001895826] Chr2:127290221 [GRCh38]
Chr2:128047797 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1760G>A (p.Gly587Glu) single nucleotide variant not provided [RCV001971235] Chr2:127272932 [GRCh38]
Chr2:128030508 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.968G>A (p.Ser323Asn) single nucleotide variant not provided [RCV002008893] Chr2:127288719 [GRCh38]
Chr2:128046295 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1336A>G (p.Ile446Val) single nucleotide variant not provided [RCV001947481] Chr2:127286709 [GRCh38]
Chr2:128044285 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.224C>T (p.Pro75Leu) single nucleotide variant Xeroderma pigmentosum [RCV002256850]|not provided [RCV001863747] Chr2:127293523 [GRCh38]
Chr2:128051099 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.5G>A (p.Gly2Asp) single nucleotide variant not provided [RCV001971666] Chr2:127294077 [GRCh38]
Chr2:128051653 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1005G>A (p.Ser335=) single nucleotide variant not provided [RCV002025434] Chr2:127288682 [GRCh38]
Chr2:128046258 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1831G>C (p.Gly611Arg) single nucleotide variant not provided [RCV002025809] Chr2:127271450 [GRCh38]
Chr2:128029026 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.877G>A (p.Ala293Thr) single nucleotide variant not provided [RCV001864044] Chr2:127288810 [GRCh38]
Chr2:128046386 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.659_660insA (p.Ser221fs) insertion not provided [RCV001970221] Chr2:127289499..127289500 [GRCh38]
Chr2:128047075..128047076 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.1057G>C (p.Ala353Pro) single nucleotide variant not provided [RCV002044837] Chr2:127286988 [GRCh38]
Chr2:128044564 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.240C>T (p.Pro80=) single nucleotide variant not provided [RCV001949397] Chr2:127292841 [GRCh38]
Chr2:128050417 [GRCh37]
Chr2:2q14.3
likely benign
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 copy number loss not provided [RCV001832883] Chr2:122699106..143799629 [GRCh37]
Chr2:2q14.3-22.2
pathogenic
NM_000122.2(ERCC3):c.2305C>A (p.Pro769Thr) single nucleotide variant not provided [RCV001927419] Chr2:127257640 [GRCh38]
Chr2:128015216 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1944A>T (p.Lys648Asn) single nucleotide variant not provided [RCV002002860] Chr2:127271337 [GRCh38]
Chr2:128028913 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3 copy number gain not provided [RCV001825178] Chr2:127864458..128083342 [GRCh37]
Chr2:2q14.3
not provided
NM_000122.2(ERCC3):c.777AGA[3] (p.Glu263_Glu264del) microsatellite not provided [RCV001909202] Chr2:127289368..127289373 [GRCh38]
Chr2:128046944..128046949 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.823G>C (p.Glu275Gln) single nucleotide variant not provided [RCV002039659] Chr2:127288864 [GRCh38]
Chr2:128046440 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 copy number gain not provided [RCV001832896] Chr2:111484468..146333604 [GRCh37]
Chr2:2q13-22.3
pathogenic
NM_000122.2(ERCC3):c.1636T>C (p.Phe546Leu) single nucleotide variant not provided [RCV001967542] Chr2:127279267 [GRCh38]
Chr2:128036843 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1079G>A (p.Arg360His) single nucleotide variant not provided [RCV001891323] Chr2:127286966 [GRCh38]
Chr2:128044542 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.943G>C (p.Val315Leu) single nucleotide variant not provided [RCV001986590] Chr2:127288744 [GRCh38]
Chr2:128046320 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1223G>A (p.Ser408Asn) single nucleotide variant not provided [RCV001914025] Chr2:127286822 [GRCh38]
Chr2:128044398 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.430A>G (p.Ser144Gly) single nucleotide variant not provided [RCV002021891] Chr2:127292651 [GRCh38]
Chr2:128050227 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1000C>G (p.Arg334Gly) single nucleotide variant not provided [RCV001964641] Chr2:127288687 [GRCh38]
Chr2:128046263 [GRCh37]
Chr2:2q14.3
uncertain significance
NC_000002.11:g.(?_127806102)_(128432598_?)del deletion Autosomal recessive limb-girdle muscular dystrophy type 2W [RCV001928002]|Myopathy, centronuclear, 2 [RCV001916346] Chr2:127806102..128432598 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.667A>G (p.Thr223Ala) single nucleotide variant not provided [RCV001970321] Chr2:127289492 [GRCh38]
Chr2:128047068 [GRCh37]
Chr2:2q14.3
uncertain significance
NC_000002.11:g.(?_128044259)_(128044613_?)del deletion not provided [RCV001872766] Chr2:128044259..128044613 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1773A>C (p.Gln591His) single nucleotide variant not provided [RCV001928344] Chr2:127272919 [GRCh38]
Chr2:128030495 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1628C>T (p.Ala543Val) single nucleotide variant not provided [RCV001948747] Chr2:127279275 [GRCh38]
Chr2:128036851 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2q14.3(chr2:128024782-129332242) copy number gain not specified [RCV002053228] Chr2:128024782..129332242 [GRCh37]
Chr2:2q14.3
uncertain significance
NC_000002.11:g.(?_127860149)_(128036971_?)dup duplication not provided [RCV001872767] Chr2:127860149..128036971 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1670A>G (p.Lys557Arg) single nucleotide variant not provided [RCV001969739] Chr2:127279233 [GRCh38]
Chr2:128036809 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2293C>T (p.Arg765Trp) single nucleotide variant not provided [RCV001964884] Chr2:127257652 [GRCh38]
Chr2:128015228 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1886A>T (p.His629Leu) single nucleotide variant not provided [RCV001889518] Chr2:127271395 [GRCh38]
Chr2:128028971 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2270T>A (p.Val757Glu) single nucleotide variant not provided [RCV002043250] Chr2:127257675 [GRCh38]
Chr2:128015251 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.217T>G (p.Ser73Ala) single nucleotide variant not provided [RCV002041244] Chr2:127293530 [GRCh38]
Chr2:128051106 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.29-10T>C single nucleotide variant not provided [RCV002003409] Chr2:127293728 [GRCh38]
Chr2:128051304 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1403C>T (p.Ala468Val) single nucleotide variant not provided [RCV001940088] Chr2:127280571 [GRCh38]
Chr2:128038147 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.234+4del deletion not provided [RCV001960929] Chr2:127293509 [GRCh38]
Chr2:128051085 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.890T>C (p.Phe297Ser) single nucleotide variant not provided [RCV002031037] Chr2:127288797 [GRCh38]
Chr2:128046373 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1436A>G (p.Asp479Gly) single nucleotide variant not provided [RCV001887716] Chr2:127280538 [GRCh38]
Chr2:128038114 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1082G>C (p.Cys361Ser) single nucleotide variant not provided [RCV001918217] Chr2:127286963 [GRCh38]
Chr2:128044539 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1250C>T (p.Thr417Ile) single nucleotide variant not provided [RCV001904173] Chr2:127286795 [GRCh38]
Chr2:128044371 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1004C>T (p.Ser335Leu) single nucleotide variant not provided [RCV002038259] Chr2:127288683 [GRCh38]
Chr2:128046259 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1727A>G (p.Asn576Ser) single nucleotide variant not provided [RCV002035550] Chr2:127279176 [GRCh38]
Chr2:128036752 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2294G>A (p.Arg765Gln) single nucleotide variant not provided [RCV001864802] Chr2:127257651 [GRCh38]
Chr2:128015227 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.678_680del (p.Ser227del) deletion not provided [RCV002026125] Chr2:127289479..127289481 [GRCh38]
Chr2:128047055..128047057 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.72T>G (p.Asp24Glu) single nucleotide variant not provided [RCV001973303] Chr2:127293675 [GRCh38]
Chr2:128051251 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.109G>A (p.Ala37Thr) single nucleotide variant not provided [RCV002049946] Chr2:127293638 [GRCh38]
Chr2:128051214 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.991G>A (p.Gly331Arg) single nucleotide variant not provided [RCV001939189] Chr2:127288696 [GRCh38]
Chr2:128046272 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.694A>G (p.Thr232Ala) single nucleotide variant Xeroderma pigmentosum [RCV002258316]|not provided [RCV002047440] Chr2:127289465 [GRCh38]
Chr2:128047041 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2064+4C>T single nucleotide variant not provided [RCV001996326] Chr2:127261224 [GRCh38]
Chr2:128018800 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.143A>G (p.Glu48Gly) single nucleotide variant Xeroderma pigmentosum [RCV002258358]|not provided [RCV002032127] Chr2:127293604 [GRCh38]
Chr2:128051180 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1165A>T (p.Ile389Phe) single nucleotide variant not provided [RCV002038818] Chr2:127286880 [GRCh38]
Chr2:128044456 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1358G>A (p.Arg453Lys) single nucleotide variant not provided [RCV001932492] Chr2:127280616 [GRCh38]
Chr2:128038192 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) single nucleotide variant not provided [RCV001935189] Chr2:127279183 [GRCh38]
Chr2:128036759 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.429C>T (p.Leu143=) single nucleotide variant Xeroderma pigmentosum [RCV002259146]|not provided [RCV001930184] Chr2:127292652 [GRCh38]
Chr2:128050228 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.2159C>G (p.Thr720Ser) single nucleotide variant not provided [RCV001903920] Chr2:127259354 [GRCh38]
Chr2:128016930 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1721G>A (p.Arg574Gln) single nucleotide variant not provided [RCV001900851] Chr2:127279182 [GRCh38]
Chr2:128036758 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.655G>A (p.Ala219Thr) single nucleotide variant not provided [RCV001975718] Chr2:127289691 [GRCh38]
Chr2:128047267 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2086A>G (p.Met696Val) single nucleotide variant not provided [RCV001931681] Chr2:127259427 [GRCh38]
Chr2:128017003 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1378G>T (p.Ala460Ser) single nucleotide variant not provided [RCV001897227] Chr2:127280596 [GRCh38]
Chr2:128038172 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.584G>T (p.Arg195Leu) single nucleotide variant not provided [RCV002047545] Chr2:127289762 [GRCh38]
Chr2:128047338 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys) single nucleotide variant not provided [RCV001865105] Chr2:127259424 [GRCh38]
Chr2:128017000 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.326G>A (p.Arg109Gln) single nucleotide variant not provided [RCV001957364] Chr2:127292755 [GRCh38]
Chr2:128050331 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.226C>G (p.Leu76Val) single nucleotide variant not provided [RCV002012533] Chr2:127293521 [GRCh38]
Chr2:128051097 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2306C>T (p.Pro769Leu) single nucleotide variant not provided [RCV001917655] Chr2:127257639 [GRCh38]
Chr2:128015215 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1926G>A (p.Arg642=) single nucleotide variant not provided [RCV001904565] Chr2:127271355 [GRCh38]
Chr2:128028931 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1924C>T (p.Arg642Trp) single nucleotide variant not provided [RCV001960354] Chr2:127271357 [GRCh38]
Chr2:128028933 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2286C>G (p.His762Gln) single nucleotide variant not provided [RCV001939140] Chr2:127257659 [GRCh38]
Chr2:128015235 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.657+1G>A single nucleotide variant not provided [RCV001973143] Chr2:127289688 [GRCh38]
Chr2:128047264 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000122.2(ERCC3):c.2064+5A>G single nucleotide variant Xeroderma pigmentosum [RCV002255708]|not provided [RCV001959915] Chr2:127261223 [GRCh38]
Chr2:128018799 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1150A>T (p.Ile384Phe) single nucleotide variant not provided [RCV001991461] Chr2:127286895 [GRCh38]
Chr2:128044471 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.892C>T (p.Arg298Trp) single nucleotide variant not provided [RCV001961132] Chr2:127288795 [GRCh38]
Chr2:128046371 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1814T>A (p.Ile605Asn) single nucleotide variant not provided [RCV002028934] Chr2:127272878 [GRCh38]
Chr2:128030454 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1451T>C (p.Ile484Thr) single nucleotide variant not provided [RCV002050187] Chr2:127280523 [GRCh38]
Chr2:128038099 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.565C>A (p.Leu189Ile) single nucleotide variant not provided [RCV001904332] Chr2:127289781 [GRCh38]
Chr2:128047357 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.412G>A (p.Glu138Lys) single nucleotide variant not provided [RCV001938866] Chr2:127292669 [GRCh38]
Chr2:128050245 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1346A>G (p.Lys449Arg) single nucleotide variant not provided [RCV001898854] Chr2:127280628 [GRCh38]
Chr2:128038204 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.992G>T (p.Gly331Val) single nucleotide variant not provided [RCV002018088] Chr2:127288695 [GRCh38]
Chr2:128046271 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) single nucleotide variant not provided [RCV001884884] Chr2:127280626 [GRCh38]
Chr2:128038202 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.777AGA[4] (p.Glu264del) microsatellite not provided [RCV002014061] Chr2:127289368..127289370 [GRCh38]
Chr2:128046944..128046946 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1317C>G (p.Ile439Met) single nucleotide variant not provided [RCV001936887] Chr2:127286728 [GRCh38]
Chr2:128044304 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.721A>G (p.Lys241Glu) single nucleotide variant not provided [RCV001998772] Chr2:127289438 [GRCh38]
Chr2:128047014 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1201A>G (p.Ile401Val) single nucleotide variant not provided [RCV001996569] Chr2:127286844 [GRCh38]
Chr2:128044420 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.383G>T (p.Ser128Ile) single nucleotide variant not provided [RCV001921292] Chr2:127292698 [GRCh38]
Chr2:128050274 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.701G>A (p.Arg234Gln) single nucleotide variant not provided [RCV001930186] Chr2:127289458 [GRCh38]
Chr2:128047034 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) single nucleotide variant not provided [RCV001956455] Chr2:127259382 [GRCh38]
Chr2:128016958 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000122.2(ERCC3):c.2263G>A (p.Asp755Asn) single nucleotide variant not provided [RCV001935834]|not specified [RCV002246597] Chr2:127257682 [GRCh38]
Chr2:128015258 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2260G>A (p.Asp754Asn) single nucleotide variant not provided [RCV001876776] Chr2:127257685 [GRCh38]
Chr2:128015261 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2072C>T (p.Thr691Met) single nucleotide variant not provided [RCV001937632] Chr2:127259441 [GRCh38]
Chr2:128017017 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1417G>A (p.Glu473Lys) single nucleotide variant not provided [RCV002048107] Chr2:127280557 [GRCh38]
Chr2:128038133 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2208A>C (p.Arg736Ser) single nucleotide variant not provided [RCV001919752] Chr2:127259305 [GRCh38]
Chr2:128016881 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.1342+6C>G single nucleotide variant not provided [RCV001979140] Chr2:127286697 [GRCh38]
Chr2:128044273 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2077C>T (p.Leu693Phe) single nucleotide variant not provided [RCV002051020] Chr2:127259436 [GRCh38]
Chr2:128017012 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.2109T>C (p.Phe703=) single nucleotide variant not provided [RCV001989516] Chr2:127259404 [GRCh38]
Chr2:128016980 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1731-6C>T single nucleotide variant not provided [RCV002087617] Chr2:127272967 [GRCh38]
Chr2:128030543 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.225C>T (p.Pro75=) single nucleotide variant not provided [RCV002085667] Chr2:127293522 [GRCh38]
Chr2:128051098 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.823-20C>T single nucleotide variant not provided [RCV002074492] Chr2:127288884 [GRCh38]
Chr2:128046460 [GRCh37]
Chr2:2q14.3
likely benign
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 copy number gain 2q13q22.3 microduplication syndrome [RCV002226436] Chr2:112475655..145691999 [GRCh37]
Chr2:2q13-22.3
pathogenic
NM_000122.2(ERCC3):c.1528-11C>T single nucleotide variant not provided [RCV002170188] Chr2:127279386 [GRCh38]
Chr2:128036962 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) single nucleotide variant Xeroderma pigmentosum [RCV002258386]|not provided [RCV002125123] Chr2:127280525 [GRCh38]
Chr2:128038101 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.49C>A (p.Arg17=) single nucleotide variant not provided [RCV002144926] Chr2:127293698 [GRCh38]
Chr2:128051274 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.2064+8T>A single nucleotide variant not provided [RCV002126830] Chr2:127261220 [GRCh38]
Chr2:128018796 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1027+13A>G single nucleotide variant not provided [RCV002089401] Chr2:127288647 [GRCh38]
Chr2:128046223 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1730+16T>G single nucleotide variant not provided [RCV002187055] Chr2:127279157 [GRCh38]
Chr2:128036733 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.234+9G>T single nucleotide variant not provided [RCV002146361] Chr2:127293504 [GRCh38]
Chr2:128051080 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.2112G>T (p.Ser704=) single nucleotide variant Xeroderma pigmentosum [RCV002256905]|not provided [RCV002209906] Chr2:127259401 [GRCh38]
Chr2:128016977 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1302G>A (p.Glu434=) single nucleotide variant not provided [RCV002090131] Chr2:127286743 [GRCh38]
Chr2:128044319 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1752G>A (p.Thr584=) single nucleotide variant not provided [RCV002095792] Chr2:127272940 [GRCh38]
Chr2:128030516 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.315G>A (p.Glu105=) single nucleotide variant not provided [RCV002086535] Chr2:127292766 [GRCh38]
Chr2:128050342 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1299G>A (p.Gln433=) single nucleotide variant not provided [RCV002094037] Chr2:127286746 [GRCh38]
Chr2:128044322 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.741C>T (p.Asp247=) single nucleotide variant not provided [RCV002150004] Chr2:127289418 [GRCh38]
Chr2:128046994 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1515C>T (p.Val505=) single nucleotide variant not provided [RCV002071423] Chr2:127280459 [GRCh38]
Chr2:128038035 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.105G>A (p.Gln35=) single nucleotide variant not provided [RCV002081019] Chr2:127293642 [GRCh38]
Chr2:128051218 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.792G>A (p.Glu264=) single nucleotide variant not provided [RCV002097260] Chr2:127289367 [GRCh38]
Chr2:128046943 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1023C>A (p.Pro341=) single nucleotide variant not provided [RCV002186463] Chr2:127288664 [GRCh38]
Chr2:128046240 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.726T>C (p.Ser242=) single nucleotide variant not provided [RCV002132496] Chr2:127289433 [GRCh38]
Chr2:128047009 [GRCh37]
Chr2:2q14.3
benign
NM_000122.2(ERCC3):c.2218-11C>T single nucleotide variant not provided [RCV002146647] Chr2:127257738 [GRCh38]
Chr2:128015314 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1342+8G>T single nucleotide variant not provided [RCV002201595] Chr2:127286695 [GRCh38]
Chr2:128044271 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.29-23_29-20del deletion not provided [RCV002153932] Chr2:127293738..127293741 [GRCh38]
Chr2:128051314..128051317 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.942T>C (p.Ala314=) single nucleotide variant not provided [RCV002179744] Chr2:127288745 [GRCh38]
Chr2:128046321 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.930A>G (p.Leu310=) single nucleotide variant not provided [RCV002122065] Chr2:127288757 [GRCh38]
Chr2:128046333 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1038G>A (p.Lys346=) single nucleotide variant not provided [RCV002123975] Chr2:127287007 [GRCh38]
Chr2:128044583 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1212C>T (p.Ser404=) single nucleotide variant not provided [RCV002120684] Chr2:127286833 [GRCh38]
Chr2:128044409 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1588C>A (p.Arg530=) single nucleotide variant not provided [RCV002099549] Chr2:127279315 [GRCh38]
Chr2:128036891 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.225C>A (p.Pro75=) single nucleotide variant not provided [RCV002083327] Chr2:127293522 [GRCh38]
Chr2:128051098 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.28+20C>T single nucleotide variant not provided [RCV002102110] Chr2:127294034 [GRCh38]
Chr2:128051610 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.29-9A>G single nucleotide variant not provided [RCV002216828] Chr2:127293727 [GRCh38]
Chr2:128051303 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1730+8T>C single nucleotide variant not provided [RCV002177622] Chr2:127279165 [GRCh38]
Chr2:128036741 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.348C>T (p.Tyr116=) single nucleotide variant not provided [RCV002160551] Chr2:127292733 [GRCh38]
Chr2:128050309 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1731-17G>A single nucleotide variant not provided [RCV002142006] Chr2:127272978 [GRCh38]
Chr2:128030554 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.823-15G>A single nucleotide variant not provided [RCV002182289] Chr2:127288879 [GRCh38]
Chr2:128046455 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1011C>A (p.Val337_Ile338=) single nucleotide variant Xeroderma pigmentosum [RCV002255847] Chr2:127288676 [GRCh38]
Chr2:128046252 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.235-1G>A single nucleotide variant Xeroderma pigmentosum [RCV002257080] Chr2:127292847 [GRCh38]
Chr2:128050423 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000122.2(ERCC3):c.816C>G (p.Val272=) single nucleotide variant not provided [RCV002138889] Chr2:127289343 [GRCh38]
Chr2:128046919 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1028-19G>A single nucleotide variant not provided [RCV002135492] Chr2:127287036 [GRCh38]
Chr2:128044612 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1224C>T (p.Ser408=) single nucleotide variant not provided [RCV002119633] Chr2:127286821 [GRCh38]
Chr2:128044397 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.753C>T (p.Phe251=) single nucleotide variant not provided [RCV002100188] Chr2:127289406 [GRCh38]
Chr2:128046982 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.2292G>A (p.Ser764=) single nucleotide variant not provided [RCV002141099] Chr2:127257653 [GRCh38]
Chr2:128015229 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.927C>T (p.Asp309=) single nucleotide variant not provided [RCV002098673] Chr2:127288760 [GRCh38]
Chr2:128046336 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1416C>T (p.Arg472=) single nucleotide variant not provided [RCV002203816] Chr2:127280558 [GRCh38]
Chr2:128038134 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1984C>T (p.Leu662=) single nucleotide variant not provided [RCV002201676] Chr2:127261308 [GRCh38]
Chr2:128018884 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.657+16G>C single nucleotide variant not provided [RCV002119532] Chr2:127289673 [GRCh38]
Chr2:128047249 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1704A>G (p.Leu568=) single nucleotide variant not provided [RCV002160034] Chr2:127279199 [GRCh38]
Chr2:128036775 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.111G>T (p.Ala37=) single nucleotide variant Xeroderma pigmentosum [RCV002255727]|not provided [RCV002159912] Chr2:127293636 [GRCh38]
Chr2:128051212 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.522-11C>T single nucleotide variant not provided [RCV002156773] Chr2:127289835 [GRCh38]
Chr2:128047411 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.172G>T (p.Ala58Ser) single nucleotide variant not specified [RCV002222862] Chr2:127293575 [GRCh38]
Chr2:128051151 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000122.2(ERCC3):c.658-15C>T single nucleotide variant not provided [RCV002124169] Chr2:127289516 [GRCh38]
Chr2:128047092 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1945+10C>A single nucleotide variant not provided [RCV002199135] Chr2:127271326 [GRCh38]
Chr2:128028902 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.801A>G (p.Thr267=) single nucleotide variant not provided [RCV002161001] Chr2:127289358 [GRCh38]
Chr2:128046934 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.330A>C (p.Pro110=) single nucleotide variant not provided [RCV002163236] Chr2:127292751 [GRCh38]
Chr2:128050327 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.690C>T (p.Pro230=) single nucleotide variant not provided [RCV002142735] Chr2:127289469 [GRCh38]
Chr2:128047045 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.882A>G (p.Glu294_Tyr295=) single nucleotide variant Xeroderma pigmentosum [RCV002257084] Chr2:127288805 [GRCh38]
Chr2:128046381 [GRCh37]
Chr2:2q14.3
likely benign
NM_000122.2(ERCC3):c.1510A>C (p.Lys504Gln) single nucleotide variant Xeroderma pigmentosum [RCV002258483] Chr2:127280464 [GRCh38]
Chr2:128038040 [GRCh37]
Chr2:2q14.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3435 AgrOrtholog
COSMIC ERCC3 COSMIC
Ensembl Genes ENSG00000163161 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000285398 ENTREZGENE
  ENSP00000285398.2 UniProtKB/Swiss-Prot
  ENSP00000390888.1 UniProtKB/TrEMBL
  ENSP00000408901.1 UniProtKB/TrEMBL
  ENSP00000415335.1 UniProtKB/TrEMBL
  ENSP00000494012.1 UniProtKB/TrEMBL
  ENSP00000494116.1 UniProtKB/TrEMBL
  ENSP00000494526.1 UniProtKB/TrEMBL
  ENSP00000494545.1 UniProtKB/TrEMBL
  ENSP00000494889.1 UniProtKB/TrEMBL
  ENSP00000495336.1 UniProtKB/TrEMBL
  ENSP00000495619.1 UniProtKB/TrEMBL
  ENSP00000496038.1 UniProtKB/TrEMBL
  ENSP00000496684.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000285398 ENTREZGENE
  ENST00000285398.7 UniProtKB/Swiss-Prot
  ENST00000426778.5 UniProtKB/TrEMBL
  ENST00000445889.5 UniProtKB/TrEMBL
  ENST00000456257.1 UniProtKB/TrEMBL
  ENST00000642308.1 UniProtKB/TrEMBL
  ENST00000644317.1 UniProtKB/TrEMBL
  ENST00000645233.1 UniProtKB/TrEMBL
  ENST00000645467.1 UniProtKB/TrEMBL
  ENST00000645504.1 UniProtKB/TrEMBL
  ENST00000645736.1 UniProtKB/TrEMBL
  ENST00000646654.1 UniProtKB/TrEMBL
  ENST00000647169.1 UniProtKB/TrEMBL
  ENST00000647496.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163161 GTEx
HGNC ID HGNC:3435 ENTREZGENE
Human Proteome Map ERCC3 Human Proteome Map
InterPro ERCC3_RAD25_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase/UvrB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPB/Ssl2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPB/Ssl2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2071 UniProtKB/Swiss-Prot
NCBI Gene 2071 ENTREZGENE
OMIM 133510 OMIM
  610651 OMIM
  616390 OMIM
Pfam ERCC3_RAD25_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ResIII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27849 PharmGKB
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs rad25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4R8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5H0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5L2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y681_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6W8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y762_HUMAN UniProtKB/TrEMBL
  A0A2R8YES7_HUMAN UniProtKB/TrEMBL
  A0A2R8YFS3_HUMAN UniProtKB/TrEMBL
  B3KRG2 ENTREZGENE, UniProtKB/TrEMBL
  B3KTH1 ENTREZGENE, UniProtKB/TrEMBL
  ERCC3_HUMAN UniProtKB/Swiss-Prot
  F2Z2V4_HUMAN UniProtKB/TrEMBL
  G3V1S1 ENTREZGENE, UniProtKB/TrEMBL
  H7C309_HUMAN UniProtKB/TrEMBL
  P19447 ENTREZGENE
UniProt Secondary Q53QM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 ERCC3  ERCC excision repair 3, TFIIH core complex helicase subunit    excision repair cross-complementation group 3  Symbol and/or name change 5135510 APPROVED
2014-03-12 ERCC3  excision repair cross-complementation group 3    excision repair cross-complementing rodent repair deficiency, complementation group 3  Symbol and/or name change 5135510 APPROVED
2012-02-07 ERCC3  excision repair cross-complementing rodent repair deficiency, complementation group 3  ERCC3  excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)  Symbol and/or name change 5135510 APPROVED
2011-08-16 ERCC3  excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)  ERCC3  excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)  Symbol and/or name change 5135510 APPROVED