LRP6 c.246A>T ;(p.K82N)

Variant ID: 12-12397399-T-A

NM_002336.2(LRP6):c.246A>T;(p.K82N)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Journal Of Personalized Medicine
Lee, Yejin Y; Chae, Wonseon W; Kim, Youn Jung YJ; Kim, Jung-Wook JW
Publication Date: 2022-08-29

Variant appearance in text: LRP6: 246A>T; Lys82Asn
PubMed Link: 36143186
Variant Present in the following documents:
  • jpm-12-01401.pdf
View BVdb publication page



Monogenic basis of young-onset cryptogenic stroke: a multicenter study.

Annals Of Translational Medicine
Yuan, Wei-Zhuang WZ; Shang, Liang L; Tian, Dai-Shi DS; Wu, Shi-Wen SW; You, Yong Y; Tian, Cheng-Lin CL; Wu, Bo B; Liu, Jun J; Sun, Qin-Jian QJ; Liu, Qing Q; Xu, Wei-Hai WH
Publication Date: 2022-05

Variant appearance in text: LRP6: K82N
PubMed Link: 35928749
Variant Present in the following documents:
  • Main text
  • atm-10-09-512.pdf
View BVdb publication page



Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Stroke And Vascular Neurology
Shi, Mengmeng M; Leng, Xinyi X; Li, Ying Y; Chen, Zihan Z; Cao, Ye Y; Chung, Tiffany T; Ip, Bonaventure Ym BY; Ip, Vincent Hl VH; Soo, Yannie Oy YO; Fan, Florence Sy FS; Ma, Sze Ho SH; Ma, Karen K; Chan, Anne Y Y AYY; Au, Lisa Wc LW; Leung, Howan H; Lau, Alexander Y AY; Mok, Vincent Ct VC; Choy, Kwong Wai KW; Dong, Zirui Z; Leung, Thomas W TW
Publication Date: 2022-06

Variant appearance in text: LRP6: K82N
PubMed Link: 34880113
Variant Present in the following documents:
  • svn-2021-001157supp001.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs199693693
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: LRP6: 246A>T; Lys82Asn; rs199693693
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A
Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM
Publication Date: 2019-07

Variant appearance in text: LRP6: K82N
PubMed Link: 31063268
Variant Present in the following documents:
  • AJMG-179-1260-s007.xlsx, sheet 1
View BVdb publication page



Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.

International Journal Of Molecular Sciences
Guo, Jian J; Li, Yang Y; Ren, Yi-Hong YH; Sun, Zhijun Z; Dong, Jie J; Yan, Han H; Xu, Yujun Y; Wang, Dao Wen DW; Zheng, Gu-Yan GY; Du, Jie J; Tian, Xiao-Li XL
Publication Date: 2016-07-22

Variant appearance in text: LRP6: K82N; rs199693693
PubMed Link: 27455246
Variant Present in the following documents:
  • ijms-17-01173-s001.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: LRP6: 246A>T; K82N
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: LRP6: K82N
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: LRP6: K82N
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page



The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction.

Lipids In Health And Disease
Xu, Shun S; Cheng, Jie J; Chen, Yu-Ning YN; Li, Keshen K; Ma, Ze-Wei ZW; Cen, Jin-Ming JM; Liu, Xinguang X; Yang, Xi-Li XL; Chen, Can C; Xiong, Xing-Dong XD
Publication Date: 2014-06-07

Variant appearance in text: LRP6: K82N
PubMed Link: 24906453
Variant Present in the following documents:
  • Main text
  • 1476-511X-13-94.pdf
View BVdb publication page



Functional analysis LRP6 novel mutations in patients with coronary artery disease.

Plos One
Xu, Yujun Y; Gong, Wei W; Peng, Jia J; Wang, Haoran H; Huang, Jin J; Ding, Hu H; Wang, Dao Wen DW
Publication Date: 2014

Variant appearance in text: LRP6: K82N
PubMed Link: 24427284
Variant Present in the following documents:
  • Main text
  • pone.0084345.pdf
View BVdb publication page