KEGG   VARIANT: 25913v1
Entry
25913v1                      Variant                               
Name
POT1 mutation
Type
Loss of function
Gene
POT1  protection of telomeres 1 [KO:K11109]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606478
Network
nt06510  Telomere length regulation
Disease
H02251  Cerebroretinal microangiopathy with calcifications and cysts
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
H02624  Tumor predisposition syndrome
Reference
PMID:24686849
  Authors
Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, Lopez-Otin C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ
  Title
POT1 loss-of-function variants predispose to familial melanoma.
  Journal
Nat Genet 46:478-481 (2014)
DOI:10.1038/ng.2947
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