FRY c.4612A>G ;(p.T1538A)

Variant ID: 13-32786449-A-G

NM_023037.2(FRY):c.4612A>G;(p.T1538A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: FRY: Thr1538Ala
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Frontiers In Genetics
Chang, Xiao X; Lima, Leandro de Araujo LA; Liu, Yichuan Y; Li, Jin J; Li, Qingqin Q; Sleiman, Patrick M A PMA; Hakonarson, Hakon H
Publication Date: 2018

Variant appearance in text: FRY: T1538A
PubMed Link: 30323833
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page