RGS6 c.1040G>A ;(p.R347Q)

Variant ID: 14-72976936-G-A

NM_001204424.1(RGS6):c.1040G>A;(p.R347Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: RGS6: R347Q
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A Global Map of G Protein Signaling Regulation by RGS Proteins.

Cell
Masuho, Ikuo I; Balaji, Santhanam S; Muntean, Brian S BS; Skamangas, Nickolas K NK; Chavali, Sreenivas S; Tesmer, John J G JJG; Babu, M Madan MM; Martemyanov, Kirill A KA
Publication Date: 2020-10-15

Variant appearance in text: RGS6: 1040G>A; Arg347Gln; rs144184633
PubMed Link: 33007266
Variant Present in the following documents:
  • mmc5.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: RGS6: R347Q; rs144184633
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 9
View BVdb publication page