RBMX2 c.860G>A ;(p.R287H)

Variant ID: X-129546713-G-A

NM_016024.2(RBMX2):c.860G>A;(p.R287H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: RBMX2: 860G>A; R287H; rs5977266
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: RBMX2: R287H
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.

Plos One
Laine, Pia P; Rowell, William J WJ; Paulin, Lars L; Kujawa, Steve S; Raterman, Denise D; Mayhew, George G; Wendt, Jennifer J; Burgess, Daniel L DL; Partonen, Timo T; Paunio, Tiina T; Auvinen, Petri P; Ekholm, Jenny M JM
Publication Date: 2021

Variant appearance in text: RBMX2: R287H; rs5977266
PubMed Link: 34914762
Variant Present in the following documents:
  • Main text
  • pone.0261170.pdf
View BVdb publication page



Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.

Plos One
Laine, Pia P; Rowell, William J WJ; Paulin, Lars L; Kujawa, Steve S; Raterman, Denise D; Mayhew, George G; Wendt, Jennifer J; Burgess, Daniel L DL; Partonen, Timo T; Paunio, Tiina T; Auvinen, Petri P; Ekholm, Jenny M JM
Publication Date: 2021

Variant appearance in text: RBMX2: R287H; rs5977266
PubMed Link: 34914762
Variant Present in the following documents:
  • Main text
  • pone.0261170.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: RBMX2: R287H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: rs5977266
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: RBMX2: R287H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page