TMEM106B c.401G>A ;(p.S134N)

Variant ID: 7-12263971-G-A

NM_001134232.1(TMEM106B):c.401G>A;(p.S134N)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Cross-β helical filaments of Tau and TMEM106B in gray and white matter of multiple system tauopathy with presenile dementia.

Acta Neuropathologica
Hoq, Md Rejaul MR; Bharath, Sakshibeedu R SR; Hallinan, Grace I GI; Fernandez, Anllely A; Vago, Frank S FS; Ozcan, Kadir A KA; Li, Daoyi D; Garringer, Holly J HJ; Vidal, Ruben R; Ghetti, Bernardino B; Jiang, Wen W
Publication Date: 2023-03-23

Variant appearance in text: TMEM106B: S134N; rs147889591
PubMed Link: 36952000
Variant Present in the following documents:
  • Main text
  • 401_2023_Article_2563.pdf
  • 401_2023_2563_MOESM1_ESM.pdf
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: TMEM106B: S134N
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: TMEM106B: S134N
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: TMEM106B: S134N; rs147889591
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.

Acta Neuropathologica
Lee, Edward B EB; Porta, Sílvia S; Michael Baer, G G; Xu, Yan Y; Suh, EunRan E; Kwong, Linda K LK; Elman, Lauren L; Grossman, Murray M; Lee, Virginia M-Y VM; Irwin, David J DJ; Van Deerlin, Vivianna M VM; Trojanowski, John Q JQ
Publication Date: 2017-07

Variant appearance in text: TMEM106B: 401G>A; Ser134Asn
PubMed Link: 28130640
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: TMEM106B: S134N; rs147889591
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III.

Molecular Brain
Jun, Mi-Hee MH; Han, Jeong-Ho JH; Lee, Yu-Kyung YK; Jang, Deok-Jin DJ; Kaang, Bong-Kiun BK; Lee, Jin-A JA
Publication Date: 2015-12-10

Variant appearance in text: TMEM106B: S134N
PubMed Link: 26651479
Variant Present in the following documents:
  • Main text
  • 13041_2015_Article_177.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: TMEM106B: S134N
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



TMEM106B a novel risk factor for frontotemporal lobar degeneration.

Journal Of Molecular Neuroscience : Mn
van der Zee, Julie J; Van Broeckhoven, Christine C
Publication Date: 2011-11

Variant appearance in text: TMEM106B: S134N
PubMed Link: 21614538
Variant Present in the following documents:
  • Main text
  • 12031_2011_Article_9555.pdf
View BVdb publication page



TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort.

Brain : A Journal Of Neurology
van der Zee, Julie J; Van Langenhove, Tim T; Kleinberger, Gernot G; Sleegers, Kristel K; Engelborghs, Sebastiaan S; Vandenberghe, Rik R; Santens, Patrick P; Van den Broeck, Marleen M; Joris, Geert G; Brys, Jolien J; Mattheijssens, Maria M; Peeters, Karin K; Cras, Patrick P; De Deyn, Peter P PP; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2011-03

Variant appearance in text: TMEM106B: S134N
PubMed Link: 21354975
Variant Present in the following documents:
  • Main text
  • awr007.pdf
View BVdb publication page



TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

Neurology
Finch, N N; Carrasquillo, M M MM; Baker, M M; Rutherford, N J NJ; Coppola, G G; Dejesus-Hernandez, M M; Crook, R R; Hunter, T T; Ghidoni, R R; Benussi, L L; Crook, J J; Finger, E E; Hantanpaa, K J KJ; Karydas, A M AM; Sengdy, P P; Gonzalez, J J; Seeley, W W WW; Johnson, N N; Beach, T G TG; Mesulam, M M; Forloni, G G; Kertesz, A A; Knopman, D S DS; Uitti, R R; White, C L CL; Caselli, R R; Lippa, C C; Bigio, E H EH; Wszolek, Z K ZK; Binetti, G G; Mackenzie, I R IR; Miller, B L BL; Boeve, B F BF; Younkin, S G SG; Dickson, D W DW; Petersen, R C RC; Graff-Radford, N R NR; Geschwind, D H DH; Rademakers, R R
Publication Date: 2011-02-01

Variant appearance in text: TMEM106B: 401G>A; S134N
PubMed Link: 21178100
Variant Present in the following documents:
  • Main text
View BVdb publication page