KEGG   VARIANT: 5216v1
Entry
5216v1                      Variant                                
Name
PFN1 mutation
Gene
PFN1  profilin 1 [KO:K05759]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176610
Network
nt06464  Amyotrophic lateral sclerosis
nt06541  Cytoskeleton in neurons
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Reference
  Authors
Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE
  Title
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
  Journal
Nature 488:499-503 (2012)
DOI:10.1038/nature11280
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