PGBD1 c.73A>G ;(p.T25A)

Variant ID: 6-28251663-A-G

NM_032507.3(PGBD1):c.73A>G;(p.T25A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: PGBD1: 73A>G; T25A; rs114108814
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Deficiency of schnurri-2, an MHC enhancer binding protein, induces mild chronic inflammation in the brain and confers molecular, neuronal, and behavioral phenotypes related to schizophrenia.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Takao, Keizo K; Kobayashi, Katsunori K; Hagihara, Hideo H; Ohira, Koji K; Shoji, Hirotaka H; Hattori, Satoko S; Koshimizu, Hisatsugu H; Umemori, Juzoh J; Toyama, Keiko K; Nakamura, Hironori K HK; Kuroiwa, Mahomi M; Maeda, Jun J; Atsuzawa, Kimie K; Esaki, Kayoko K; Yamaguchi, Shun S; Furuya, Shigeki S; Takagi, Tsuyoshi T; Walton, Noah M NM; Hayashi, Nobuhiro N; Suzuki, Hidenori H; Higuchi, Makoto M; Usuda, Nobuteru N; Suhara, Tetsuya T; Nishi, Akinori A; Matsumoto, Mitsuyuki M; Ishii, Shunsuke S; Miyakawa, Tsuyoshi T
Publication Date: 2013-07

Variant appearance in text: rs114108814
PubMed Link: 23389689
Variant Present in the following documents:
  • npp201338x10.pdf
View BVdb publication page