GC c.*26-91A>C

Variant ID: 4-72607678-T-G

NM_000583.4(GC):c.*26-91A>C

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2070741
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs2070741
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



The Association of Vitamin D and Its Pathway Genes' Polymorphisms with Hypertensive Disorders of Pregnancy: A Prospective Cohort Study.

Nutrients
Si, Shuting S; Mo, Minjia M; Cheng, Haoyue H; Peng, Zhicheng Z; Alifu, Xialidan X; Zhou, Haibo H; Chi, Peihan P; Zhuang, Yan Y; Yu, Yunxian Y
Publication Date: 2022-06-06

Variant appearance in text: rs2070741
PubMed Link: 35684156
Variant Present in the following documents:
  • Main text
  • nutrients-14-02355.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: rs2070741
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: rs2070741
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Assessing vitamin D related genetic variants, status, and influence factors in pregnant women in Eastern and Central China.

Food Science & Nutrition
Qiu, Xiaofei X; Chen, Xinhao X; Zuo, Shangming S; Ji, Yuan Y; Wen, Zheng Z; Wei, Linna L; Wu, Shouxin S; Diao, Le L; Li, Bo B; Zhao, Jiangman J; Chen, Tianrui T
Publication Date: 2020-08

Variant appearance in text: rs2070741
PubMed Link: 32884689
Variant Present in the following documents:
  • Main text
  • FSN3-8-4078.pdf
View BVdb publication page



Association between variants in vitamin D-binding protein gene and vitamin D deficiency among pregnant women in china.

Journal Of Clinical Laboratory Analysis
Dong, Jinju J; Zhou, Qinghong Q; Wang, Jinxiu J; Lu, Yangqing Y; Li, Jun J; Wang, Lijun L; Wang, Lingyun L; Meng, Peng P; Li, Fei F; Zhou, Hongmei H; Liu, Congli C; Wang, Ting T; Wang, Juan J; Mi, Yi Y; Xu, Wang-Yang WY; Deng, Jie J
Publication Date: 2020-09

Variant appearance in text: rs2070741
PubMed Link: 32537819
Variant Present in the following documents:
  • Main text
  • JCLA-34-e23376.pdf
View BVdb publication page



Genotype-independent association between vitamin D deficiency and polycystic ovarian syndrome in Lahore, Pakistan.

Scientific Reports
Lone, Nasira M NM; Riaz, Saba S; Eusaph, Amna Z AZ; Mein, Charles A CA; Wozniak, Eva L EL; Xenakis, Theodoros T; Wu, Zhenqiang Z; Younis, Sidra S; Jolliffe, David A DA; Junaid, Kashaf K; Martineau, Adrian R AR
Publication Date: 2020-02-10

Variant appearance in text: rs2070741
PubMed Link: 32042037
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_59228.pdf
View BVdb publication page



DBP rs16846876 and rs12512631 polymorphisms are associated with progression to AIDS naïve HIV-infected patients: a retrospective study.

Journal Of Biomedical Science
Jiménez-Sousa, María Ángeles MÁ; Jiménez, José Luis JL; Fernández-Rodríguez, Amanda A; Bellón, José María JM; Rodríguez, Carmen C; Riera, Melchor M; Portilla, Joaquín J; Castro, Ángeles Á; Muñoz-Fernández, María Ángeles MÁ; Resino, Salvador S
Publication Date: 2019-10-23

Variant appearance in text: rs2070741
PubMed Link: 31640710
Variant Present in the following documents:
  • Main text
  • 12929_2019_Article_577.pdf
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: rs2070741
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



High-Dose Vitamin D3 during Tuberculosis Treatment in Mongolia. A Randomized Controlled Trial.

American Journal Of Respiratory And Critical Care Medicine
Ganmaa, Davaasambuu D; Munkhzul, Baatar B; Fawzi, Wafaie W; Spiegelman, Donna D; Willett, Walter C WC; Bayasgalan, Purev P; Baasansuren, Erkhembayar E; Buyankhishig, Burneebaatar B; Oyun-Erdene, Sereeter S; Jolliffe, David A DA; Xenakis, Theodoros T; Bromage, Sabri S; Bloom, Barry R BR; Martineau, Adrian R AR
Publication Date: 2017-09-01

Variant appearance in text: rs2070741
PubMed Link: 28692301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2070741
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs2070741
PubMed Link: 24294218
Variant Present in the following documents:
  • Main text
  • fgene-04-00234.pdf
View BVdb publication page