UBIAD1 c.335A>G ;(p.D112G)

Variant ID: 1-11333923-A-G

NM_013319.2(UBIAD1):c.335A>G;(p.D112G)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: UBIAD1: 335A>G; Asp112Gly
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: UBIAD1: 335A>G; Asp112Gly
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.

Plos Genetics
Jiang, Shi-You SY; Tang, Jing-Jie JJ; Xiao, Xu X; Qi, Wei W; Wu, Suqian S; Jiang, Chao C; Hong, Jiaxu J; Xu, Jianjiang J; Song, Bao-Liang BL; Luo, Jie J
Publication Date: 2019-07

Variant appearance in text: UBIAD1: D112G
PubMed Link: 31323021
Variant Present in the following documents:
  • Main text
  • pgen.1008289.pdf
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A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.

Scientific Reports
Dong, Fei F; Jin, Xueting X; Boettler, Michelle A MA; Sciulli, Harrison H; Abu-Asab, Mones M; Del Greco, Christina C; Wang, Shurong S; Hu, Yueh-Chiang YC; Campos, Maria M MM; Jackson, Shelley N SN; Muller, Ludovic L; Woods, Amina S AS; Combs, Christian A CA; Zhang, Jianhua J; Nickerson, Michael L ML; Kruth, Howard S HS; Weiss, Jayne S JS; Kao, Winston W WW
Publication Date: 2018-07-05

Variant appearance in text: UBIAD1: D112G
PubMed Link: 29977031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.

Journal Of Ophthalmology
Lin, Benjamin R BR; Frausto, Ricardo F RF; Vo, Rosalind C RC; Chiu, Stephan Y SY; Chen, Judy L JL; Aldave, Anthony J AJ
Publication Date: 2016

Variant appearance in text: UBIAD1: 335A>G
PubMed Link: 27382485
Variant Present in the following documents:
  • Main text
  • JOPH2016-1968493.pdf
View BVdb publication page



Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi.

Journal Of Lipid Research
Schumacher, Marc M MM; Jun, Dong-Jae DJ; Jo, Youngah Y; Seemann, Joachim J; DeBose-Boyd, Russell A RA
Publication Date: 2016-07

Variant appearance in text: UBIAD1: D112G
PubMed Link: 27121042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bringing Bioactive Compounds into Membranes: The UbiA Superfamily of Intramembrane Aromatic Prenyltransferases.

Trends In Biochemical Sciences
Li, Weikai W
Publication Date: 2016-04

Variant appearance in text: UBIAD1: D112G
PubMed Link: 26922674
Variant Present in the following documents:
  • Main text
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: SCCD: D112G
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: UBIAD1: D112G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Functional characterization of the vitamin K2 biosynthetic enzyme UBIAD1.

Plos One
Hirota, Yoshihisa Y; Nakagawa, Kimie K; Sawada, Natsumi N; Okuda, Naoko N; Suhara, Yoshitomo Y; Uchino, Yuri Y; Kimoto, Takashi T; Funahashi, Nobuaki N; Kamao, Maya M; Tsugawa, Naoko N; Okano, Toshio T
Publication Date: 2015

Variant appearance in text: UBIAD1: D112G
PubMed Link: 25874989
Variant Present in the following documents:
  • Main text
  • pone.0125737.pdf
View BVdb publication page



Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis.

Cell
Mugoni, Vera V; Postel, Ruben R; Catanzaro, Valeria V; De Luca, Elisa E; Turco, Emilia E; Digilio, Giuseppe G; Silengo, Lorenzo L; Murphy, Michael P MP; Medana, Claudio C; Stainier, Didier Y R DY; Bakkers, Jeroen J; Santoro, Massimo M MM
Publication Date: 2013-01-31

Variant appearance in text: UBIAD1: D112G
PubMed Link: 23374346
Variant Present in the following documents:
  • Main text
View BVdb publication page



The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.

Human Mutation
Nickerson, Michael L ML; Bosley, Allen D AD; Weiss, Jayne S JS; Kostiha, Brittany N BN; Hirota, Yoshihisa Y; Brandt, Wolfgang W; Esposito, Dominic D; Kinoshita, Shigeru S; Wessjohann, Ludger L; Morham, Scott G SG; Andresson, Thorkell T; Kruth, Howard S HS; Okano, Toshio T; Dean, Michael M
Publication Date: 2013-02

Variant appearance in text: UBIAD1: D112G
PubMed Link: 23169578
Variant Present in the following documents:
  • Main text
View BVdb publication page



A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.

Molecular Vision
Du, Chunyu C; Li, Ying Y; Dai, Lili L; Gong, Lingmin L; Han, Chengcheng C
Publication Date: 2011

Variant appearance in text: UBIAD1: D112G
PubMed Link: 22065921
Variant Present in the following documents:
  • Main text
View BVdb publication page



Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).

Middle East African Journal Of Ophthalmology
Al-Ghadeer, Huda H; Mohamed, Jawahir Y JY; Khan, Arif O AO
Publication Date: 2011-01

Variant appearance in text: UBIAD1: D112G
PubMed Link: 21572737
Variant Present in the following documents:
  • Main text
View BVdb publication page



UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Plos One
Nickerson, Michael L ML; Kostiha, Brittany N BN; Brandt, Wolfgang W; Fredericks, William W; Xu, Ke-Ping KP; Yu, Fu-Shin FS; Gold, Bert B; Chodosh, James J; Goldberg, Marc M; Lu, Da Wen DW; Yamada, Masakazu M; Tervo, Timo M TM; Grutzmacher, Richard R; Croasdale, Chris C; Hoeltzenbein, Maria M; Sutphin, John J; Malkowicz, S Bruce SB; Wessjohann, Ludger L; Kruth, Howard S HS; Dean, Michael M; Weiss, Jayne S JS
Publication Date: 2010-05-21

Variant appearance in text: UBIAD1: D112G
PubMed Link: 20505825
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

Molecular Vision
Jing, Yang Y; Liu, Chun C; Xu, Junmin J; Wang, Liya L
Publication Date: 2009-07-29

Variant appearance in text: UBIAD1: D112G
PubMed Link: 19649163
Variant Present in the following documents:
  • Main text
View BVdb publication page



The IC3D classification of the corneal dystrophies.

Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12

Variant appearance in text: UBIAD1: 335A>G; Asp112Gly
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Plos One
Orr, Andrew A; Dubé, Marie-Pierre MP; Marcadier, Julien J; Jiang, Haiyan H; Federico, Antonio A; George, Stanley S; Seamone, Christopher C; Andrews, David D; Dubord, Paul P; Holland, Simon S; Provost, Sylvie S; Mongrain, Vanessa V; Evans, Susan S; Higgins, Brent B; Bowman, Sharen S; Guernsey, Duane D; Samuels, Mark M
Publication Date: 2007-08-01

Variant appearance in text: UBIAD1: 335A>G
PubMed Link: 17668063
Variant Present in the following documents:
  • Main text
  • pone.0000685.pdf
View BVdb publication page