NLRC3 c.2157G>C ;(p.K719N)

Variant ID: 16-3606938-C-G

NM_178844.2(NLRC3):c.2157G>C;(p.K719N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation.

Molecular Psychiatry
Neumann, Alexander A; Küçükali, Fahri F; Bos, Isabelle I; Vos, Stephanie J B SJB; Engelborghs, Sebastiaan S; De Pooter, Tim T; Joris, Geert G; De Rijk, Peter P; De Roeck, Ellen E; Tsolaki, Magda M; Verhey, Frans F; Martinez-Lage, Pablo P; Tainta, Mikel M; Frisoni, Giovanni G; Blin, Oliver O; Richardson, Jill J; Bordet, Régis R; Scheltens, Philip P; Popp, Julius J; Peyratout, Gwendoline G; Johannsen, Peter P; Frölich, Lutz L; Vandenberghe, Rik R; Freund-Levi, Yvonne Y; Streffer, Johannes J; Lovestone, Simon S; Legido-Quigley, Cristina C; Ten Kate, Mara M; Barkhof, Frederik F; Strazisar, Mojca M; Zetterberg, Henrik H; Bertram, Lars L; Visser, Pieter Jelle PJ; van Broeckhoven, Christine C; Sleegers, Kristel K; ,
Publication Date: 2022-04

Variant appearance in text: N/A
PubMed Link: 35173266
Variant Present in the following documents:
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: NLRC3: K719N
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page