SLC2A9 c.374C>G ;(p.T125R)

Variant ID: 4-9998441-G-C

NM_020041.2(SLC2A9):c.374C>G;(p.T125R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: SLC2A9: T125R
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Nature Communications
Cirulli, Elizabeth T ET; White, Simon S; Read, Robert W RW; Elhanan, Gai G; Metcalf, William J WJ; Tanudjaja, Francisco F; Fath, Donna M DM; Sandoval, Efren E; Isaksson, Magnus M; Schlauch, Karen A KA; Grzymski, Joseph J JJ; Lu, James T JT; Washington, Nicole L NL
Publication Date: 2020-01-28

Variant appearance in text: SLC2A9: T125R
PubMed Link: 31992710
Variant Present in the following documents:
  • 41467_2020_Article_14288.pdf
View BVdb publication page



Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.

Frontiers In Physiology
Ruiz, Anne A; Gautschi, Ivan I; Schild, Laurent L; Bonny, Olivier O
Publication Date: 2018

Variant appearance in text: Glut9: T125R; rs181509591
PubMed Link: 29967582
Variant Present in the following documents:
  • Main text
  • fphys-09-00476.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs181509591
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page