SLC9A9 c.1312T>C ;(p.S438P)

Variant ID: 3-143212498-A-G

NM_173653.3(SLC9A9):c.1312T>C;(p.S438P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Alterations of presynaptic proteins in autism spectrum disorder.

Frontiers In Molecular Neuroscience
Yeo, Xin Yi XY; Lim, Yi Tang YT; Chae, Woo Ri WR; Park, Chungwon C; Park, Hyokeun H; Jung, Sangyong S
Publication Date: 2022

Variant appearance in text: NHE9: S438P
PubMed Link: 36466804
Variant Present in the following documents:
  • Main text
  • fnmol-15-1062878.pdf
View BVdb publication page



The endosomal pH regulator NHE9 is a driver of stemness in glioblastoma.

Pnas Nexus
Ko, Myungjun M; Makena, Monish R MR; Schiapparelli, Paula P; Suarez-Meade, Paola P; Mekile, Allatah X AX; Lal, Bachchu B; Lopez-Bertoni, Hernando H; Kozielski, Kristen L KL; Green, Jordan J JJ; Laterra, John J; Quiñones-Hinojosa, Alfredo A; Rao, Rajini R
Publication Date: 2022-03

Variant appearance in text: NHE9: S438P
PubMed Link: 35387234
Variant Present in the following documents:
  • Main text
  • pgac013.pdf
View BVdb publication page



Structure and elevator mechanism of the mammalian sodium/proton exchanger NHE9.

The Embo Journal
Winklemann, Iven I; Matsuoka, Rei R; Meier, Pascal F PF; Shutin, Denis D; Zhang, Chenou C; Orellana, Laura L; Sexton, Ricky R; Landreh, Michael M; Robinson, Carol V CV; Beckstein, Oliver O; Drew, David D
Publication Date: 2020-12-15

Variant appearance in text: NHE9: Ser438Pro
PubMed Link: 33118634
Variant Present in the following documents:
  • Main text
  • EMBJ-39-e105908.pdf
View BVdb publication page



A gain of function paradox: Targeted therapy for glioblastoma associated with abnormal NHE9 expression.

Journal Of Cellular And Molecular Medicine
Pall, Ashley E AE; Juratli, Lena L; Guntur, Dhyana D; Bandyopadhyay, Krisanu K; Kondapalli, Kalyan C KC
Publication Date: 2019-11

Variant appearance in text: NHE9: S438P
PubMed Link: 31532058
Variant Present in the following documents:
  • Main text
  • JCMM-23-7859.pdf
View BVdb publication page



Functional analysis of Na+/H+ exchanger 9 variants identified in patients with autism and epilepsy.

Matters
Prasad, Hari H; Osei-Owusu, James J; Rao, Rajini R
Publication Date: 2017-04

Variant appearance in text: NHE9: S438P
PubMed Link: 28815171
Variant Present in the following documents:
  • nihms887306.pdf
View BVdb publication page



A leak pathway for luminal protons in endosomes drives oncogenic signalling in glioblastoma.

Nature Communications
Kondapalli, Kalyan C KC; Llongueras, Jose P JP; Capilla-González, Vivian V; Prasad, Hari H; Hack, Anniesha A; Smith, Christopher C; Guerrero-Cázares, Hugo H; Quiñones-Hinojosa, Alfredo A; Rao, Rajini R
Publication Date: 2015-02-09

Variant appearance in text: NHE9: S438P
PubMed Link: 25662504
Variant Present in the following documents:
  • Main text
  • nihms655433.pdf
  • NIHMS655433-supplement-1.pdf
View BVdb publication page



An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease.

Frontiers In Cellular Neuroscience
Kondapalli, Kalyan C KC; Prasad, Hari H; Rao, Rajini R
Publication Date: 2014

Variant appearance in text: SLC9A9: 1312T>C
PubMed Link: 25002837
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional evaluation of autism-associated mutations in NHE9.

Nature Communications
Kondapalli, Kalyan C KC; Hack, Anniesha A; Schushan, Maya M; Landau, Meytal M; Ben-Tal, Nir N; Rao, Rajini R
Publication Date: 2013

Variant appearance in text: NHE9: S438P
PubMed Link: 24065030
Variant Present in the following documents:
  • Main text
  • nihms518698.pdf
View BVdb publication page