SLC2A9 c.1235C>G ;(p.P412R)

Variant ID: 4-9889247-G-C

NM_020041.2(SLC2A9):c.1235C>G;(p.P412R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.

Biomedicines
Hakoda, Masayuki M; Ichida, Kimiyoshi K
Publication Date: 2022-07-13

Variant appearance in text: SLC2A9: P412R
PubMed Link: 35885001
Variant Present in the following documents:
  • biomedicines-10-01696.pdf
View BVdb publication page



Function of Uric Acid Transporters and Their Inhibitors in Hyperuricaemia.

Frontiers In Pharmacology
Sun, Hao-Lu HL; Wu, Yi-Wan YW; Bian, He-Ge HG; Yang, Hui H; Wang, Heng H; Meng, Xiao-Ming XM; Jin, Juan J
Publication Date: 2021

Variant appearance in text: SLC2A9: P412R
PubMed Link: 34335246
Variant Present in the following documents:
  • Main text
  • fphar-12-667753.pdf
View BVdb publication page



Insights into Substrate and Inhibitor Selectivity among Human GLUT Transporters through Comparative Modeling and Molecular Docking.

Acs Omega
Ferreira, Rafaela Salgado RS; Pons, Jean-Luc JL; Labesse, Gilles G
Publication Date: 2019-03-31

Variant appearance in text: SLC2A9: P412R
PubMed Link: 32462103
Variant Present in the following documents:
  • ao8b03447.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: P412R; rs121908323
PubMed Link: 29967582
Variant Present in the following documents:
  • Main text
  • fphys-09-00476.pdf
View BVdb publication page



Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.

Bmc Pediatrics
Shen, Huijun H; Feng, Chunyue C; Jin, Xia X; Mao, Jianhua J; Fu, Haidong H; Gu, Weizhong W; Liu, Ai'min A; Shu, Qiang Q; Du, Lizhong L
Publication Date: 2014-03-14

Variant appearance in text: SLC2A9: Pro412Arg
PubMed Link: 24628802
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

Bmc Medical Genetics
Jeannin, Guido G; Chiarelli, Nicola N; Gaggiotti, Mario M; Ritelli, Marco M; Maiorca, Paolo P; Quinzani, Stefano S; Verzeletti, Federica F; Possenti, Stefano S; Colombi, Marina M; Cancarini, Giovanni G
Publication Date: 2014-01-07

Variant appearance in text: SLC2A9: Pro412Arg
PubMed Link: 24397858
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-3.pdf
View BVdb publication page



Uric acid transport and disease.

The Journal Of Clinical Investigation
So, Alexander A; Thorens, Bernard B
Publication Date: 2010-06

Variant appearance in text: SLC2A9: P412R
PubMed Link: 20516647
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

American Journal Of Human Genetics
Matsuo, Hirotaka H; Chiba, Toshinori T; Nagamori, Shushi S; Nakayama, Akiyoshi A; Domoto, Hideharu H; Phetdee, Kanokporn K; Wiriyasermkul, Pattama P; Kikuchi, Yuichi Y; Oda, Takashi T; Nishiyama, Junichiro J; Nakamura, Takahiro T; Morimoto, Yuji Y; Kamakura, Keiko K; Sakurai, Yutaka Y; Nonoyama, Shigeaki S; Kanai, Yoshikatsu Y; Shinomiya, Nariyoshi N
Publication Date: 2008-12

Variant appearance in text: SLC2A9: P412R
PubMed Link: 19026395
Variant Present in the following documents:
  • Main text
View BVdb publication page