ALOX12 c.1902G>A ;(p.L634=)

Variant ID: 17-6913652-G-A

NM_000697.2(ALOX12):c.1902G>A;(p.L634=)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: ALOX12: L634L; rs312462
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs312462
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ALOX12: 1902G>A; L634L; rs312462
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ALOX12: L634L; rs312462
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



XAF1 as a modifier of p53 function and cancer susceptibility.

Science Advances
Pinto, Emilia M EM; Figueiredo, Bonald C BC; Chen, Wenan W; Galvao, Henrique C R HCR; Formiga, Maria Nirvana MN; Fragoso, Maria Candida B V MCBV; Ashton-Prolla, Patricia P; Ribeiro, Enilze M S F EMSF; Felix, Gabriela G; Costa, Tatiana E B TEB; Savage, Sharon A SA; Yeager, Meredith M; Palmero, Edenir I EI; Volc, Sahlua S; Salvador, Hector H; Fuster-Soler, Jose Luis JL; Lavarino, Cinzia C; Chantada, Guillermo G; Vaur, Dominique D; Odone-Filho, Vicente V; Brugières, Laurence L; Else, Tobias T; Stoffel, Elena M EM; Maxwell, Kara N KN; Achatz, Maria Isabel MI; Kowalski, Luis L; de Andrade, Kelvin C KC; Pappo, Alberto A; Letouze, Eric E; Latronico, Ana Claudia AC; Mendonca, Berenice B BB; Almeida, Madson Q MQ; Brondani, Vania B VB; Bittar, Camila M CM; Soares, Emerson W S EWS; Mathias, Carolina C; Ramos, Cintia R N CRN; Machado, Moara M; Zhou, Weiyin W; Jones, Kristine K; Vogt, Aurelie A; Klincha, Payal P PP; Santiago, Karina M KM; Komechen, Heloisa H; Paraizo, Mariana M MM; Parise, Ivy Z S IZS; Hamilton, Kayla V KV; Wang, Jinling J; Rampersaud, Evadnie E; Clay, Michael R MR; Murphy, Andrew J AJ; Lalli, Enzo E; Nichols, Kim E KE; Ribeiro, Raul C RC; Rodriguez-Galindo, Carlos C; Korbonits, Marta M; Zhang, Jinghui J; Thomas, Mark G MG; Connelly, Jon P JP; Pruett-Miller, Shondra S; Diekmann, Yoan Y; Neale, Geoffrey G; Wu, Gang G; Zambetti, Gerard P GP
Publication Date: 2020-06

Variant appearance in text: ALOX12: L634L; rs312462
PubMed Link: 32637605
Variant Present in the following documents:
  • aba3231_Table_S1.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: ALOX12: 1902G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.

Scientific Reports
Ngô, Huân M HM; Zhou, Ying Y; Lorenzi, Hernan H; Wang, Kai K; Kim, Taek-Kyun TK; Zhou, Yong Y; El Bissati, Kamal K; Mui, Ernest E; Fraczek, Laura L; Rajagopala, Seesandra V SV; Roberts, Craig W CW; Henriquez, Fiona L FL; Montpetit, Alexandre A; Blackwell, Jenefer M JM; Jamieson, Sarra E SE; Wheeler, Kelsey K; Begeman, Ian J IJ; Naranjo-Galvis, Carlos C; Alliey-Rodriguez, Ney N; Davis, Roderick G RG; Soroceanu, Liliana L; Cobbs, Charles C; Steindler, Dennis A DA; Boyer, Kenneth K; Noble, A Gwendolyn AG; Swisher, Charles N CN; Heydemann, Peter T PT; Rabiah, Peter P; Withers, Shawn S; Soteropoulos, Patricia P; Hood, Leroy L; McLeod, Rima R
Publication Date: 2017-09-13

Variant appearance in text: rs312462
PubMed Link: 28904337
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10675.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: ALOX12: L634L; rs312462
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: ALOX12: L634L; rs312462
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Associations between ALOX, COX, and CRP polymorphisms and breast cancer among Hispanic and non-Hispanic white women: The breast cancer health disparities study.

Molecular Carcinogenesis
Connor, Avonne E AE; Baumgartner, Richard N RN; Baumgartner, Kathy B KB; Pinkston, Christina M CM; Boone, Stephanie D SD; John, Esther M EM; Torres-Mejía, Gabriela G; Hines, Lisa M LM; Giuliano, Anna R AR; Wolff, Roger K RK; Slattery, Martha L ML
Publication Date: 2015-12

Variant appearance in text: rs312462
PubMed Link: 25339205
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in prostaglandin synthesis and related pathways, NSAID use and colorectal cancer risk in the Colon Cancer Family Registry.

Carcinogenesis
Resler, Alexa J AJ; Makar, Karen W KW; Heath, Laura L; Whitton, John J; Potter, John D JD; Poole, Elizabeth M EM; Habermann, Nina N; Scherer, Dominique D; Duggan, David D; Wang, Hansong H; Lindor, Noralane M NM; Passarelli, Michael N MN; Baron, John A JA; Newcomb, Polly A PA; Le Marchand, Loic L; Ulrich, Cornelia M CM
Publication Date: 2014-09

Variant appearance in text: ALOX12: L634L; rs312462
PubMed Link: 24908683
Variant Present in the following documents:
  • Main text
View BVdb publication page



ALOX12 in human toxoplasmosis.

Infection And Immunity
Witola, William H WH; Liu, Susan Ruosu SR; Montpetit, Alexandre A; Welti, Ruth R; Hypolite, Magali M; Roth, Mary M; Zhou, Ying Y; Mui, Ernest E; Cesbron-Delauw, Marie-France MF; Fournie, Gilbert J GJ; Cavailles, Pierre P; Bisanz, Cordelia C; Boyer, Kenneth K; Withers, Shawn S; Noble, A Gwendolyn AG; Swisher, Charles N CN; Heydemann, Peter T PT; Rabiah, Peter P; Muench, Stephen P SP; McLeod, Rima R
Publication Date: 2014-07

Variant appearance in text: rs312462
PubMed Link: 24686056
Variant Present in the following documents:
  • Main text
View BVdb publication page



PTGS1, PTGS2, ALOX5, ALOX12, ALOX15, and FLAP SNPs: interaction with fatty acids in colon cancer and rectal cancer.

Genes & Nutrition
Habermann, Nina N; Ulrich, Cornelia M CM; Lundgreen, Abbie A; Makar, Karen W KW; Poole, Elizabeth M EM; Caan, Bette B; Kulmacz, Richard R; Whitton, John J; Galbraith, Rachel R; Potter, John D JD; Slattery, Martha L ML
Publication Date: 2013-01

Variant appearance in text: ALOX12: L634L; rs312462
PubMed Link: 22678777
Variant Present in the following documents:
  • Main text
View BVdb publication page



ALOX12 polymorphisms are associated with fat mass but not peak bone mineral density in Chinese nuclear families.

International Journal Of Obesity (2005)
Xiao, W-J WJ; He, J-W JW; Zhang, H H; Hu, W-W WW; Gu, J-M JM; Yue, H H; Gao, G G; Yu, J-B JB; Wang, C C; Ke, Y-H YH; Fu, W-Z WZ; Zhang, Z-L ZL
Publication Date: 2011-03

Variant appearance in text: ALOX12: Leu634Leu; rs312462
PubMed Link: 20697415
Variant Present in the following documents:
  • Main text
  • ijo2010157a.pdf
View BVdb publication page



ALOX12 gene is associated with the onset of natural menopause in white women.

Menopause (New York, N.Y.)
Liu, Pengyuan P; Lu, Yan Y; Recker, Robert R RR; Deng, Hong-Wen HW; Dvornyk, Volodymyr V
Publication Date: 2010

Variant appearance in text: rs312462
PubMed Link: 20061896
Variant Present in the following documents:
  • Main text
View BVdb publication page