LRP1B c.8689A>G ;(p.M2897V)

Variant ID: 2-141259417-T-C

NM_018557.2(LRP1B):c.8689A>G;(p.M2897V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs146626756
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs146626756
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.

Iscience
Dong, Weilai W; Jin, Sheng Chih SC; Allocco, August A; Zeng, Xue X; Sheth, Amar H AH; Panchagnula, Shreyas S; Castonguay, Annie A; Lorenzo, Louis-Étienne LÉ; Islam, Barira B; Brindle, Geneviève G; Bachand, Karine K; Hu, Jamie J; Sularz, Agata A; Gaillard, Jonathan J; Choi, Jungmin J; Dunbar, Ashley A; Nelson-Williams, Carol C; Kiziltug, Emre E; Furey, Charuta Gavankar CG; Conine, Sierra S; Duy, Phan Q PQ; Kundishora, Adam J AJ; Loring, Erin E; Li, Boyang B; Lu, Qiongshi Q; Zhou, Geyu G; Liu, Wei W; Li, Xinyue X; Sierant, Michael C MC; Mane, Shrikant S; Castaldi, Christopher C; López-Giráldez, Francesc F; Knight, James R JR; Sekula, Raymond F RF; Simard, J Marc JM; Eskandar, Emad N EN; Gottschalk, Christopher C; Moliterno, Jennifer J; Günel, Murat M; Gerrard, Jason L JL; Dib-Hajj, Sulayman S; Waxman, Stephen G SG; Barker, Fred G FG; Alper, Seth L SL; Chahine, Mohamed M; Haider, Shozeb S; De Koninck, Yves Y; Lifton, Richard P RP; Kahle, Kristopher T KT
Publication Date: 2020-10-23

Variant appearance in text: LRP1B: Met2897Val
PubMed Link: 33083721
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Publication Date: 2016-12

Variant appearance in text: LRP1B: 8689A>G; M2897V
PubMed Link: 27997549
Variant Present in the following documents:
  • pgen.1006501.s002.xlsx, sheet 1
View BVdb publication page