UBIAD1 c.524C>T ;(p.T175I)

Variant ID: 1-11334112-C-T

NM_013319.2(UBIAD1):c.524C>T;(p.T175I)

This variant was identified in 16 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: 524C>T; Thr175Ile
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Type 1 polyisoprenoid diphosphate phosphatase modulates geranylgeranyl-mediated control of HMG CoA reductase and UBIAD1.

Elife
Elsabrouty, Rania R; Jo, Youngah Y; Hwang, Seonghwan S; Jun, Dong-Jae DJ; DeBose-Boyd, Russell A RA
Publication Date: 2021-11-29

Variant appearance in text: UBIAD1: T175I
PubMed Link: 34842525
Variant Present in the following documents:
  • elife-64688.pdf
View BVdb publication page



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: T175I
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: 524C>T
PubMed Link: 27382485
Variant Present in the following documents:
  • Main text
  • JOPH2016-1968493.pdf
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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: T175I
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: T175I
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: T175I
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: T175I
PubMed Link: 25874989
Variant Present in the following documents:
  • Main text
  • pone.0125737.pdf
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: T175I
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: T175I
PubMed Link: 22065921
Variant Present in the following documents:
  • Main text
View BVdb publication page



The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression.

Dna And Cell Biology
Fredericks, William J WJ; McGarvey, Terry T; Wang, Huiyi H; Lal, Priti P; Puthiyaveettil, Raghunath R; Tomaszewski, John J; Sepulveda, Jorge J; Labelle, Ed E; Weiss, Jayne S JS; Nickerson, Michael L ML; Kruth, Howard S HS; Brandt, Wolfgang W; Wessjohann, Ludger A LA; Malkowicz, S Bruce SB
Publication Date: 2011-11

Variant appearance in text: TERE1: T175I
PubMed Link: 21740188
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: T175I
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: T175I
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: T175I
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: 524C>T; Thr175Ile
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: 524C>T
PubMed Link: 17668063
Variant Present in the following documents:
  • Main text
  • pone.0000685.pdf
View BVdb publication page