LOXL2 c.133C>T ;(p.H45Y)

Variant ID: 8-23225732-G-A

NM_002318.2(LOXL2):c.133C>T;(p.H45Y)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Frontiers In Neurology
Chen, Zirong Z; Yang, Huaitao H; Wang, Jiajia J; Long, Guoxian G; Xi, Qingsong Q; Chen, Tao T; He, Yue Y; Zhang, Bin B; Wan, Feng F
Publication Date: 2023

Variant appearance in text: LOXL2: 133C>T; H45Y; rs142252012
PubMed Link: 37181548
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 2
View BVdb publication page



Lysyl oxidase family gene polymorphisms and risk of aneurysmal subarachnoid hemorrhage: a case-control study.

Annals Of Translational Medicine
Luo, Chun C; Li, Bingyang B; Liu, Chao C; Dong, Rui R; Hu, Chongyu C; Liu, Junyu J; Hu, Liming L; Liao, Xin X; Zhou, Jilin J; Xu, Lu L; Liu, Songlin S; Yuan, Dun D; Jiang, Weixi W; Yan, Junxia J; Li, Yifeng Y
Publication Date: 2022-09

Variant appearance in text: rs142252012
PubMed Link: 36172092
Variant Present in the following documents:
  • Main text
  • atm-10-17-925.pdf
View BVdb publication page



Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Bmc Medical Genomics
Miao, Mingzhu M; Lu, Shoulian S; Sun, Xiao X; Zhao, Meng M; Wang, Jue J; Su, Xiaotan X; Jin, Bai B; Sun, Lizhou L
Publication Date: 2022-07-13

Variant appearance in text: LOXL2: 133C>T; H45Y; rs142252012
PubMed Link: 35831859
Variant Present in the following documents:
  • 12920_2022_1311_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Polymorphisms in Lysyl Oxidase Family Genes Are Associated With Intracranial Aneurysm Susceptibility in a Chinese Population.

Frontiers In Endocrinology
Luo, Chun C; Hu, Chongyu C; Li, Bingyang B; Liu, Junyu J; Hu, Liming L; Dong, Rui R; Liao, Xin X; Zhou, Jilin J; Xu, Lu L; Liu, Songlin S; Li, Yifeng Y; Yuan, Dun D; Jiang, Weixi W; Yan, Junxia J
Publication Date: 2021

Variant appearance in text: LOXL2: 133C>T; H45Y; rs142252012
PubMed Link: 34393991
Variant Present in the following documents:
  • Main text
  • fendo-12-642698.pdf
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs142252012
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page