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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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