GC c.*26-528G>A

Variant ID: 4-72608115-C-T

NM_000583.4(GC):c.*26-528G>A

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs705117
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genetic Determinants of 25-Hydroxyvitamin D Concentrations and Their Relevance to Public Health.

Nutrients
Hyppönen, Elina E; Vimaleswaran, Karani S KS; Zhou, Ang A
Publication Date: 2022-10-20

Variant appearance in text: rs705117
PubMed Link: 36297091
Variant Present in the following documents:
  • nutrients-14-04408.pdf
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Levels of Vitamin D and Expression of the Vitamin D Receptor in Relation to Breast Cancer Risk and Survival.

Nutrients
Huss, Linnea L; Butt, Salma Tunå ST; Borgquist, Signe S; Elebro, Karin K; Sandsveden, Malte M; Manjer, Jonas J; Rosendahl, Ann A
Publication Date: 2022-08-16

Variant appearance in text: rs705117
PubMed Link: 36014861
Variant Present in the following documents:
  • Main text
  • nutrients-14-03353.pdf
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Commentary: Vitamin D Status in Relation to the Clinical Outcome of Hospitalized COVID-19 Patients.

Frontiers In Medicine
Speeckaert, Marijn M MM; Delanghe, Joris R JR
Publication Date: 2022

Variant appearance in text: rs705117
PubMed Link: 35783611
Variant Present in the following documents:
  • Main text
  • fmed-09-922820.pdf
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The Association Between GC Gene Polymorphisms and Metabolic Syndrome in Chinese Rural Population: A Case-Control Study.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Zhao, Tong T; Zhang, Dongdong D; Liu, Yiming Y; Feng, Mingming M; Xu, Ze Z; Huang, Haoyue H; Zhang, Luoya L; Li, Wenjie W; Li, Xing X
Publication Date: 2022

Variant appearance in text: rs705117
PubMed Link: 35058699
Variant Present in the following documents:
  • Main text
  • dmso-15-165.pdf
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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: rs705117
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Is vitamin D a modifiable risk factor for dental caries?

Wellcome Open Research
Dodhia, Serena A SA; West, Nicola X NX; Thomas, Steven J SJ; Timpson, Nicholas J NJ; Johansson, Ingegerd I; Lif Holgerson, Pernilla P; Dudding, Tom T; Haworth, Simon S
Publication Date: 2020

Variant appearance in text: rs705117
PubMed Link: 34386609
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-5-18849.pdf
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Genome-wide association study of vitamin D concentrations and bone mineral density in the African American-Diabetes Heart Study.

Plos One
Palmer, Nicholette D ND; Lu, Lingyi L; Register, Thomas C TC; Lenchik, Leon L; Carr, J Jeffrey JJ; Hicks, Pamela J PJ; Smith, S Carrie SC; Xu, Jianzhao J; Dimitrov, Latchezar L; Keaton, Jacob J; Guan, Meijian M; Ng, Maggie C Y MCY; Chen, Yii-der I YI; Hanley, Anthony J AJ; Engelman, Corinne D CD; Norris, Jill M JM; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Bowden, Donald W DW; Freedman, Barry I BI; Divers, Jasmin J
Publication Date: 2021

Variant appearance in text: rs705117
PubMed Link: 34014961
Variant Present in the following documents:
  • Main text
  • pone.0251423.pdf
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Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review.

Journal Of Diabetes And Metabolic Disorders
Alathari, Buthaina E BE; Sabta, Aji A AA; Kalpana, Chinnappan A CA; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2020-12

Variant appearance in text: rs705117
PubMed Link: 33553043
Variant Present in the following documents:
  • Main text
  • 40200_2020_Article_561.pdf
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Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations.

Genes & Nutrition
Jones, Patrice P; Lucock, Mark M; Chaplin, George G; Jablonski, Nina G NG; Veysey, Martin M; Scarlett, Christopher C; Beckett, Emma E
Publication Date: 2020-03-13

Variant appearance in text: rs705117
PubMed Link: 32169032
Variant Present in the following documents:
  • Main text
  • 12263_2020_Article_663.pdf
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Vitamin D Pathway and Other Related Polymorphisms and Risk of Prostate Cancer: Results from the Prostate Cancer Prevention Trial.

Cancer Prevention Research (Philadelphia, Pa.)
Torkko, Kathleen K; Till, Cathee C; Tangen, Catherine M CM; Goodman, Phyllis J PJ; Song, Xiaoling X; Schenk, Jeannette M JM; Lucia, M Scott MS; Peters, Ulrike U; van Bokhoven, Adrie A; Thompson, Ian M IM; Neuhouser, Marian L ML
Publication Date: 2020-06

Variant appearance in text: rs705117
PubMed Link: 32102946
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D Deficiency in the Gulf Cooperation Council: Exploring the Triad of Genetic Predisposition, the Gut Microbiome and the Immune System.

Frontiers In Immunology
Singh, Parul P; Kumar, Manoj M; Al Khodor, Souhaila S
Publication Date: 2019

Variant appearance in text: rs705117
PubMed Link: 31134092
Variant Present in the following documents:
  • Main text
  • fimmu-10-01042.pdf
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Association between gene polymorphisms and obesity and physical fitness in Korean children.

Biology Of Sport
Kim, Hyun Jun HJ; Lee, Sang Yeoup SY; Kim, Cheol Min CM
Publication Date: 2018-03

Variant appearance in text: rs705117
PubMed Link: 30237658
Variant Present in the following documents:
  • Main text
  • JBS-35-70748.pdf
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Characteristic and influencing factors of Taqman genotyping calling error.

Journal Of Clinical Laboratory Analysis
Yu, Songcheng S; Li, Xing X; Liu, Xinxin X; Wang, Yan Y; Yu, Fei F; Xue, Yuan Y; Mao, Zhenxing Z; Wang, Chongjian C; Li, Wenjie W
Publication Date: 2018-11

Variant appearance in text: rs705117
PubMed Link: 29943492
Variant Present in the following documents:
  • Main text
View BVdb publication page



SNPs related to vitamin D and breast cancer risk: a case-control study.

Breast Cancer Research : Bcr
Huss, Linnea L; Butt, Salma Tunå ST; Almgren, Peter P; Borgquist, Signe S; Brandt, Jasmine J; Försti, Asta A; Melander, Olle O; Manjer, Jonas J
Publication Date: 2018-01-02

Variant appearance in text: rs705117
PubMed Link: 29291743
Variant Present in the following documents:
  • Main text
  • 13058_2017_Article_925.pdf
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Genetic variation in the vitamin D related pathway and breast cancer risk in women of African ancestry in the root consortium.

International Journal Of Cancer
Wang, Shengfeng S; Huo, Dezheng D; Kupfer, Sonia S; Alleyne, Dereck D; Ogundiran, Temidayo O TO; Ojengbede, Oladosu O; Zheng, Wei W; Nathanson, Katherine L KL; Nemesure, Barbara B; Ambs, Stefan S; Olopade, Olufunmilayo I OI; Zheng, Yonglan Y
Publication Date: 2018-01-01

Variant appearance in text: rs705117
PubMed Link: 28891071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of circulating vitamin D-binding protein.

The American Journal Of Clinical Nutrition
Moy, Kristin A KA; Mondul, Alison M AM; Zhang, Han H; Weinstein, Stephanie J SJ; Wheeler, William W; Chung, Charles C CC; Männistö, Satu S; Yu, Kai K; Chanock, Stephen J SJ; Albanes, Demetrius D
Publication Date: 2014-06

Variant appearance in text: rs705117
PubMed Link: 24740207
Variant Present in the following documents:
  • Main text
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Genetic association analysis of vitamin D pathway with obesity traits.

International Journal Of Obesity (2005)
Vimaleswaran, K S KS; Cavadino, A A; Berry, D J DJ; , ; Whittaker, J C JC; Power, C C; Järvelin, M-R MR; Hyppönen, E E
Publication Date: 2013-10

Variant appearance in text: rs705117
PubMed Link: 23381556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in the vitamin D pathway and breast cancer disease-free survival.

Carcinogenesis
Pande, Mala M; Thompson, Patricia A PA; Do, Kim-Anh KA; Sahin, Aysegul A AA; Amos, Christopher I CI; Frazier, Marsha L ML; Bondy, Melissa L ML; Brewster, Abenaa M AM
Publication Date: 2013-03

Variant appearance in text: rs705117
PubMed Link: 23180655
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the vitamin D receptor (VDR) and the vitamin D-binding protein (GC) and risk for colorectal cancer: results from the Colon Cancer Family Registry.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Poynter, Jenny N JN; Jacobs, Elizabeth T ET; Figueiredo, Jane C JC; Lee, Won H WH; Conti, David V DV; Campbell, Peter T PT; Levine, A Joan AJ; Limburg, Paul P; Le Marchand, Loic L; Cotterchio, Michelle M; Newcomb, Polly A PA; Potter, John D JD; Jenkins, Mark A MA; Hopper, John L JL; Duggan, David J DJ; Baron, John A JA; Haile, Robert W RW
Publication Date: 2010-02

Variant appearance in text: rs705117
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
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Association analyses of vitamin D-binding protein gene with compression strength index variation in Caucasian nuclear families.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa
Xu, X-H XH; Xiong, D-H DH; Liu, X-G XG; Guo, Y Y; Chen, Y Y; Zhao, J J; Recker, R R RR; Deng, H-W HW
Publication Date: 2010-01

Variant appearance in text: rs705117
PubMed Link: 19543766
Variant Present in the following documents:
  • Main text
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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: rs705117
PubMed Link: 19255064
Variant Present in the following documents:
  • Main text
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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: rs705117
PubMed Link: 18593774
Variant Present in the following documents:
  • Main text
View BVdb publication page