KEGG   VARIANT: 5430v1
Entry
5430v1                      Variant                                
Name
POLR2A mutation
Type
Loss of function
Gene
POLR2A  RNA polymerase II subunit A [KO:K03006]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 180660
Network
nt06502  Nucleotide excision repair
Disease
H02571  Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Reference
  Authors
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM
  Title
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
  Journal
Am J Hum Genet 105:283-301 (2019)
DOI:10.1016/j.ajhg.2019.06.016
Reference
  Authors
Nakazawa Y, Hara Y, Oka Y, Komine O, van den Heuvel D, Guo C, Daigaku Y, Isono M, He Y, Shimada M, Kato K, Jia N, Hashimoto S, Kotani Y, Miyoshi Y, Tanaka M, Sobue A, Mitsutake N, Suganami T, Masuda A, Ohno K, Nakada S, Mashimo T, Yamanaka K, Luijsterburg MS, Ogi T
  Title
Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair.
  Journal
Cell 180:1228-1244.e24 (2020)
DOI:10.1016/j.cell.2020.02.010
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