ALOX5 c.1966A>C ;(p.K656Q)

Variant ID: 10-45941076-A-C

NM_000698.3(ALOX5):c.1966A>C;(p.K656Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G
Publication Date: 2021-07

Variant appearance in text: ALOX5: 1966A>C; Lys656Gln
PubMed Link: 33170376
Variant Present in the following documents:
  • 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Functional characterization of genetic enzyme variations in human lipoxygenases.

Redox Biology
Horn, Thomas T; Reddy Kakularam, Kumar K; Anton, Monika M; Richter, Constanze C; Reddanna, Pallu P; Kuhn, Hartmut H
Publication Date: 2013

Variant appearance in text: ALOX5: Lys656Gln
PubMed Link: 24282679
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs140481567
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page