LRP1 c.9730G>A ;(p.V3244I)

Variant ID: 12-57593048-G-A

NM_002332.2(LRP1):c.9730G>A;(p.V3244I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing reveals potential mechanisms of drug resistance to FGFR3-TACC3 targeted therapy and subsequent drug selection: towards a personalized medicine.

Bmc Medical Genomics
Tong, Zhou Z; Yan, Cong C; Dong, Yu-An YA; Yao, Ming M; Zhang, Hangyu H; Liu, Lulu L; Zheng, Yi Y; Zhao, Peng P; Wang, Yimin Y; Fang, Weijia W; Zhang, Feifei F; Jiang, Weiqin W
Publication Date: 2020-09-21

Variant appearance in text: LRP1: V3244I
PubMed Link: 32957974
Variant Present in the following documents:
  • Main text
  • 12920_2020_Article_794.pdf
View BVdb publication page



Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans.

Arteriosclerosis, Thrombosis, And Vascular Biology
Oldoni, Federico F; van Capelleveen, Julian C JC; Dalila, Nawar N; Wolters, Justina C JC; Heeren, Joerg J; Sinke, Richard J RJ; Hui, David Y DY; Dallinga-Thie, Geesje M GM; Frikke-Schmidt, Ruth R; Hovingh, Kees G KG; van de Sluis, Bart B; Tybjærg-Hansen, Anne A; Kuivenhoven, Jan Albert JA
Publication Date: 2018-07

Variant appearance in text: LRP1: 9730G>A; Val3244Ile
PubMed Link: 29853565
Variant Present in the following documents:
  • Main text
  • atv-38-1440.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: LRP1: V3244I
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page