GC c.128+73C>T

Variant ID: 4-72634975-G-A

NM_000583.3(GC):c.128+73C>T

This variant was identified in 17 publications

View GRCh38 version.




Publications:


rs7041 and rs4588 Polymorphisms in Vitamin D Binding Protein Gene (VDBP) and the Risk of Diseases.

International Journal Of Molecular Sciences
Rozmus, Dominika D; Płomiński, Janusz J; Augustyn, Klaudia K; Cieślińska, Anna A
Publication Date: 2022-01-15

Variant appearance in text: rs222016
PubMed Link: 35055118
Variant Present in the following documents:
  • Main text
  • ijms-23-00933.pdf
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rs7041 and rs4588 Polymorphisms in Vitamin D Binding Protein Gene (VDBP) and the Risk of Diseases.

International Journal Of Molecular Sciences
Rozmus, Dominika D; Płomiński, Janusz J; Augustyn, Klaudia K; Cieślińska, Anna A
Publication Date: 2022-01-15

Variant appearance in text: rs222016
PubMed Link: 35055118
Variant Present in the following documents:
  • Main text
  • ijms-23-00933.pdf
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: rs222016
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: GC: 128+73C>T; rs222016
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.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: rs222016
PubMed Link: 33105665
Variant Present in the following documents:
  • Main text
  • ijms-21-07822.pdf
View BVdb publication page



Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci.

Nature Communications
LaBella, Abigail L AL; Abraham, Abin A; Pichkar, Yakov Y; Fong, Sarah L SL; Zhang, Ge G; Muglia, Louis J LJ; Abbot, Patrick P; Rokas, Antonis A; Capra, John A JA
Publication Date: 2020-07-24

Variant appearance in text: rs222016
PubMed Link: 32709900
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_17258.pdf
View BVdb publication page



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: rs222016
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: rs222016
PubMed Link: 32102946
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: GC: 128+73C>T; rs222016
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs222016
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genetic associations with 25-hydroxyvitamin D deficiency in HIV-1-infected youth: fine-mapping for the GC/DBP gene that encodes the vitamin D-binding protein.

Frontiers In Genetics
Porter, Travis R TR; Li, Xuelin X; Stephensen, Charles B CB; Mulligan, Kathleen K; Rutledge, Brandy B; Flynn, Patricia M PM; Lujan-Zilbermann, Jorge J; Hazra, Rohan R; Wilson, Craig M CM; Havens, Peter L PL; Tang, Jianming J; ,
Publication Date: 2013

Variant appearance in text: rs222016
PubMed Link: 24294218
Variant Present in the following documents:
  • Main text
  • fgene-04-00234.pdf
View BVdb publication page



Different genetic associations of the IgE production among fetus, infancy and childhood.

Plos One
Chang, Jen-Chieh JC; Kuo, Ho-Chang HC; Hsu, Te-Yao TY; Ou, Chia-Yu CY; Liu, Chieh-An CA; Chuang, Hau H; Liang, Hsiu-Mei HM; Huang, Hurng-Wern HW; Yang, Kuender D KD
Publication Date: 2013

Variant appearance in text: rs222016
PubMed Link: 23936416
Variant Present in the following documents:
  • Main text
View BVdb publication page



rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility.

Plos One
Peña-Chilet, Maria M; Ibarrola-Villava, Maider M; Martin-González, Manuel M; Feito, Marta M; Gomez-Fernandez, Cristina C; Planelles, Dolores D; Carretero, Gregorio G; Lluch, Ana A; Nagore, Eduardo E; Ribas, Gloria G
Publication Date: 2013

Variant appearance in text: rs222016
PubMed Link: 23544077
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes.

Hormones & Cancer
Muindi, Josephia R JR; Adjei, Araba A AA; Wu, Zengru R ZR; Olson, Isabel I; Huang, Huayi H; Groman, Adrienne A; Tian, Lili L; Singh, Prashant K PK; Sucheston, Lara E LE; Johnson, Candace S CS; Trump, Donald L DL; Fakih, Marwan G MG
Publication Date: 2013-08

Variant appearance in text: rs222016
PubMed Link: 23456391
Variant Present in the following documents:
  • Main text
  • 12672_2013_Article_139.pdf
View BVdb publication page



Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population.

Physiological Genomics
Arenas, I A IA; Tremblay, J J; Deslauriers, B B; Sandoval, J J; Šeda, O O; Gaudet, D D; Merlo, E E; Kotchen, T T; Cowley, A W AW; Hamet, P P
Publication Date: 2013-02-15

Variant appearance in text: rs222016
PubMed Link: 23269701
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field.

Gut
Ogino, Shuji S; Chan, Andrew T AT; Fuchs, Charles S CS; Giovannucci, Edward E
Publication Date: 2011-03

Variant appearance in text: rs222016
PubMed Link: 21036793
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: rs222016
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
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: rs222016
PubMed Link: 19255064
Variant Present in the following documents:
  • Main text
View BVdb publication page