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LRRK2 c.3681T>A ;(p.F1227L)
Variant ID: 12-40697840-T-A
NM_198578.3(
LRRK2
):c.3681T>A;(p.F1227L)
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:
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Biomedicines
Bruno, Francesco F; Laganà , Valentina V; Di Lorenzo, Raffaele R; Bruni, Amalia C AC; Maletta, Raffaele R
Publication Date: 2022-09-15
Variant appearance in text: LRRK2: Phe1227Leu
PubMed Link:
36140389
Variant Present in the following documents:
Main text
biomedicines-10-02288.pdf
View BVdb publication page
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: LRRK2: Phe1227Leu
PubMed Link:
35246273
Variant Present in the following documents:
40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page