KEGG   VARIANT: 2068v1
Entry
2068v1                      Variant                                
Name
ERCC2 mutation
Type
Loss of function
Gene
ERCC2  general transcription and DNA repair factor IIH helicase subunit XPD isoform 1 [KO:K10844]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 126340
Network
nt06502  Nucleotide excision repair
Disease
H00866  Trichothiodystrophy
H01428  Xeroderma pigmentosum
H02570  Cerebro-oculo-facio-skeletal syndrome
Reference
PMID:7849702
  Authors
Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC
  Title
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
  Journal
Hum Mol Genet 3:1783-8 (1994)
DOI:10.1093/hmg/3.10.1783
Reference
PMID:23382212
  Authors
Abdulrahman W, Iltis I, Radu L, Braun C, Maglott-Roth A, Giraudon C, Egly JM, Poterszman A
  Title
ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities.
  Journal
Proc Natl Acad Sci U S A 110:E633-42 (2013)
DOI:10.1073/pnas.1213981110
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