FAM171A2 c.465G>C ;(p.Q155H)

Variant ID: 17-42433931-C-G

NM_198475.2(FAM171A2):c.465G>C;(p.Q155H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: FAM171A2: Q155H
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Jama Network Open
Patel, Devanshi D; Mez, Jesse J; Vardarajan, Badri N BN; Staley, Lyndsay L; Chung, Jaeyoon J; Zhang, Xiaoling X; Farrell, John J JJ; Rynkiewicz, Michael J MJ; Cannon-Albright, Lisa A LA; Teerlink, Craig C CC; Stevens, Jeffery J; Corcoran, Christopher C; Gonzalez Murcia, Josue D JD; Lopez, Oscar L OL; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Schellenberg, Gerard G; Kauwe, John S K JSK; Lunetta, Kathryn L KL; Farrer, Lindsay A LA; ,
Publication Date: 2019-03-01

Variant appearance in text: rs190723348
PubMed Link: 30924900
Variant Present in the following documents:
  • jamanetwopen-2-e191350-s001.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: FAM171A2: Q155H
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page