MTOR c.4253+5631C>T

Variant ID: 1-11253684-G-A

NM_004958.3(MTOR):c.4253+5631C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


10 Years of GWAS in intraocular pressure.

Frontiers In Genetics
Gao, Xiaoyi Raymond XR; Chiariglione, Marion M; Choquet, Hélène H; Arch, Alexander J AJ
Publication Date: 2023

Variant appearance in text: rs28991009
PubMed Link: 37124618
Variant Present in the following documents:
  • Main text
  • fgene-14-1130106.pdf
View BVdb publication page



Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.

Nature Communications
Gao, Xiaoyi Raymond XR; Chiariglione, Marion M; Arch, Alexander J AJ
Publication Date: 2022-11-30

Variant appearance in text: rs28991009
PubMed Link: 36450729
Variant Present in the following documents:
  • 41467_2022_35188_MOESM2_ESM.pdf
  • 41467_2022_Article_35188.pdf
View BVdb publication page



Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: rs28991009
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics
Tanigawa, Yosuke Y; Wainberg, Michael M; Karjalainen, Juha J; Kiiskinen, Tuomo T; Venkataraman, Guhan G; Lemmelä, Susanna S; Turunen, Joni A JA; Graham, Robert R RR; Havulinna, Aki S AS; Perola, Markus M; Palotie, Aarno A; , ; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2020-05

Variant appearance in text: rs28991009
PubMed Link: 32369491
Variant Present in the following documents:
  • Main text
  • pgen.1008682.s024.pdf
  • pgen.1008682.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28991009
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page