GC c.897T>C ;(p.C299=)

Variant ID: 4-72622566-A-G

NM_000583.3(GC):c.897T>C;(p.C299=)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Gene Polymorphisms and Biological Effects of Vitamin D Receptor on Nonalcoholic Fatty Liver Disease Development and Progression.

International Journal Of Molecular Sciences
Tourkochristou, Evanthia E; Mouzaki, Athanasia A; Triantos, Christos C
Publication Date: 2023-05-05

Variant appearance in text: rs4752
PubMed Link: 37175993
Variant Present in the following documents:
  • Main text
  • ijms-24-08288.pdf
View BVdb publication page



HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 897T>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: 897T>C
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Vitamin D-Related Genetic Variations and Nonalcoholic Fatty Liver Disease: A Systematic Review.

International Journal Of Molecular Sciences
Jaroenlapnopparat, Aunchalee A; Suppakitjanusant, Pichatorn P; Ponvilawan, Ben B; Charoenngam, Nipith N
Publication Date: 2022-08-14

Variant appearance in text: rs4752
PubMed Link: 36012386
Variant Present in the following documents:
  • Main text
  • ijms-23-09122.pdf
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GC: 897T>C
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports
Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T
Publication Date: 2021-11-08

Variant appearance in text: GC: 897T>C
PubMed Link: 34750398
Variant Present in the following documents:
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 1
  • 41598_2021_987_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

Nutrients
Krasniqi, Ermira E; Boshnjaku, Arben A; Wagner, Karl-Heinz KH; Wessner, Barbara B
Publication Date: 2021-09-04

Variant appearance in text: rs4752
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: GC: Cys299Cys; rs4752
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GC: 897T>C
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Vitamin D Binding Protein (VDBP) and Its Gene Polymorphisms-The Risk of Malignant Tumors and Other Diseases.

International Journal Of Molecular Sciences
Rozmus, Dominika D; Ciesielska, Alicja A; Płomiński, Janusz J; Grzybowski, Roman R; Fiedorowicz, Ewa E; Kordulewska, Natalia N; Savelkoul, Huub H; Kostyra, Elżbieta E; Cieślińska, Anna A
Publication Date: 2020-10-22

Variant appearance in text: rs4752
PubMed Link: 33105665
Variant Present in the following documents:
  • Main text
  • ijms-21-07822.pdf
View BVdb publication page



Association of vitamin D gene polymorphisms in children with asthma - A systematic review.

Heliyon
Ashok, Narmada N; Kirubakaran, Richard R; Saraswathy, Radha R
Publication Date: 2020-09

Variant appearance in text: rs4752
PubMed Link: 32939414
Variant Present in the following documents:
  • Main text
  • main.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: GC: 897T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Advances in the treatment of uveitis in patients with spondyloarthritis - is it the time for biologic therapy?

Romanian Journal Of Ophthalmology
Mitulescu, Traian-Costin TC; Trandafir, Marius M; Dimăncescu, Monica-Gabriela MG; Ciuluvică, Radu-Constantin RC; Popescu, Viorela V; Predețeanu, Denisa D; Istrate, Sînziana S; Voinea, Liliana-Mary LM
Publication Date: 2018

Variant appearance in text: rs4752
PubMed Link: 30206554
Variant Present in the following documents:
  • Main text
  • RomJOphthalmol-62-114.pdf
View BVdb publication page



Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)
Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D
Publication Date: 2017-08-07

Variant appearance in text: GC: 897T>C
PubMed Link: 28663342
Variant Present in the following documents:
  • 2413FileS2.xlsx, sheet 1
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GC: 897T>C
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GC: 897T>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: GC: C299C; rs4752
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.

Carcinogenesis
Ahn, Jiyoung J; Albanes, Demetrius D; Berndt, Sonja I SI; Peters, Ulrike U; Chatterjee, Nilanjan N; Freedman, Neal D ND; Abnet, Christian C CC; Huang, Wen-Yi WY; Kibel, Adam S AS; Crawford, E David ED; Weinstein, Stephanie J SJ; Chanock, Stephen J SJ; Schatzkin, Arthur A; Hayes, Richard B RB; ,
Publication Date: 2009-05

Variant appearance in text: rs4752
PubMed Link: 19255064
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.

The Journal Of Clinical Endocrinology And Metabolism
Engelman, Corinne D CD; Fingerlin, Tasha E TE; Langefeld, Carl D CD; Hicks, Pamela J PJ; Rich, Stephen S SS; Wagenknecht, Lynne E LE; Bowden, Donald W DW; Norris, Jill M JM
Publication Date: 2008-09

Variant appearance in text: rs4752
PubMed Link: 18593774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

Respiratory Research
Wjst, Matthias M; Altmüller, Janine J; Faus-Kessler, Theresia T; Braig, Christine C; Bahnweg, Margret M; André, Elisabeth E
Publication Date: 2006-04-06

Variant appearance in text: rs4752
PubMed Link: 16600026
Variant Present in the following documents:
  • Main text
  • 1465-9921-7-60.pdf
View BVdb publication page