ALOX15 c.1849C>T ;(p.P617S)

Variant ID: 17-4535035-G-A

NM_001140.3(ALOX15):c.1849C>T;(p.P617S)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Cell Genomics
Belkadi, Aziz A; Thareja, Gaurav G; Abbaszadeh, Fatemeh F; Badii, Ramin R; Fauman, Eric E; Albagha, Omar M E OME; , ; Suhre, Karsten K
Publication Date: 2023-01-11

Variant appearance in text: rs41432647
PubMed Link: 36777185
Variant Present in the following documents:
  • Main text
  • mmc11.pdf
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: ALOX15: 1849C>T; Pro617Ser; rs41432647
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Structural and functional biology of arachidonic acid 15-lipoxygenase-1 (ALOX15).

Gene
Ivanov, Igor I; Kuhn, Hartmut H; Heydeck, Dagmar D
Publication Date: 2015-11-15

Variant appearance in text: ALOX15: Pro617Ser
PubMed Link: 26216303
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolutionary aspects of lipoxygenases and genetic diversity of human leukotriene signaling.

Progress In Lipid Research
Horn, Thomas T; Adel, Susan S; Schumann, Ralf R; Sur, Saubashya S; Kakularam, Kumar Reddy KR; Polamarasetty, Aparoy A; Redanna, Pallu P; Kuhn, Hartmut H; Heydeck, Dagmar D
Publication Date: 2015-01

Variant appearance in text: ALOX15: Pro617Ser; rs41432647
PubMed Link: 25435097
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ALOX15: P617S; rs41432647
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.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: ALOX15: Pro617Ser
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: ALOX15: P617S; rs41432647
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page