KEGG   VARIANT: 51750v1
Entry
51750v1                      Variant                               
Name
RTEL1 mutation
Type
Loss of function
Gene
RTEL1  regulator of telomere elongation helicase 1 [KO:K11136]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608833
Network
nt06506  Double-strand break repair
nt06510  Telomere length regulation
Disease
H00507  Dyskeratosis congenita
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Reference
  Authors
Vannier JB, Sandhu S, Petalcorin MI, Wu X, Nabi Z, Ding H, Boulton SJ
  Title
RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.
  Journal
Science 342:239-42 (2013)
DOI:10.1126/science.1241779
Reference
  Authors
Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, Schwartz DA, Lawson WE, Loyd JE, Zhao Z, Phillips JA 3rd, Blackwell TS
  Title
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
  Journal
Am J Respir Crit Care Med 191:646-55 (2015)
DOI:10.1164/rccm.201408-1510OC
Reference
  Authors
Uringa EJ, Youds JL, Lisaingo K, Lansdorp PM, Boulton SJ
  Title
RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination.
  Journal
Nucleic Acids Res 39:1647-55 (2011)
DOI:10.1093/nar/gkq1045
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