GPAA1 c.111G>A ;(p.L37=)

Variant ID: 8-145138063-G-A

NM_003801.3(GPAA1):c.111G>A;(p.L37=)

This variant was identified in 5 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: GPAA1: L37L; rs138412600
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



Genomics and Functional Genomics of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Kamboh, M Ilyas MI
Publication Date: 2022-01

Variant appearance in text: rs138412600
PubMed Link: 34935119
Variant Present in the following documents:
  • Main text
  • 13311_2021_Article_1152.pdf
View BVdb publication page



A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.

Translational Psychiatry
Park, Jun Young JY; Lee, Dongsoo D; Lee, Jang Jae JJ; Gim, Jungsoo J; Gunasekaran, Tamil Iniyan TI; Choi, Kyu Yeong KY; Kang, Sarang S; Do, Ah Ra AR; Jo, Jinyeon J; Park, Juhong J; Park, Kyungtaek K; Li, Donghe D; Lee, Sanghun S; Kim, Hoowon H; Dhanasingh, Immanuel I; Ghosh, Suparna S; Keum, Seula S; Choi, Jee Hye JH; Song, Gyun Jee GJ; Sael, Lee L; Rhee, Sangmyung S; Lovestone, Simon S; Kim, Eunae E; Moon, Seung Hwan SH; Kim, Byeong C BC; Kim, SangYun S; Saykin, Andrew J AJ; Nho, Kwangsik K; Lee, Sung Haeng SH; Farrer, Lindsay A LA; Jun, Gyungah R GR; Won, Sungho S; Lee, Kun Ho KH; ,
Publication Date: 2021-11-16

Variant appearance in text: rs138412600
PubMed Link: 34785643
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1680.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: GPAA1: 111G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype.

Jama Neurology
Ma, Yiyi Y; Jun, Gyungah R GR; Zhang, Xiaoling X; Chung, Jaeyoon J; Naj, Adam C AC; Chen, Yuning Y; Bellenguez, Celine C; Hamilton-Nelson, Kara K; Martin, Eden R ER; Kunkle, Brian W BW; Bis, Joshua C JC; Debette, Stéphanie S; DeStefano, Anita L AL; Fornage, Myriam M; Nicolas, Gaël G; van Duijn, Cornelia C; Bennett, David A DA; De Jager, Philip L PL; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Seshadri, Sudha S; Lambert, Jean-Charles JC; Schellenberg, Gerard D GD; Lunetta, Kathryn L KL; Farrer, Lindsay A LA; ,
Publication Date: 2019-09-01

Variant appearance in text: rs138412600
PubMed Link: 31180460
Variant Present in the following documents:
  • Main text
View BVdb publication page