GTF2H4 c.-32C>T

Variant ID: 6-30876152-C-T

NM_001517.5(GTF2H4):c.-32C>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs1052693
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs1052693
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
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: GTF2H4: -32C>T; rs1052693
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American Journal Of Human Genetics
Verma, Anurag A; Lucas, Anastasia A; Verma, Shefali S SS; Zhang, Yu Y; Josyula, Navya N; Khan, Anqa A; Hartzel, Dustin N DN; Lavage, Daniel R DR; Leader, Joseph J; Ritchie, Marylyn D MD; Pendergrass, Sarah A SA
Publication Date: 2018-04-05

Variant appearance in text: rs1052693
PubMed Link: 29606303
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in mRNA untranslated regions.

Wiley Interdisciplinary Reviews. Rna
Steri, Maristella M; Idda, M Laura ML; Whalen, Michael B MB; Orrù, Valeria V
Publication Date: 2018-07

Variant appearance in text: rs1052693
PubMed Link: 29582564
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs1052693
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
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: rs1052693
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine
Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN
Publication Date: 2016-12-13

Variant appearance in text: rs1052693
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.pdf
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1052693
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.

Plos Genetics
Yang, Xiaobo X; Sun, Jielin J; Gao, Yong Y; Tan, Aihua A; Zhang, Haiying H; Hu, Yanling Y; Feng, Junjie J; Qin, Xue X; Tao, Sha S; Chen, Zhuo Z; Kim, Seong-Tae ST; Peng, Tao T; Liao, Ming M; Lin, Xiaoling X; Zhang, Zengfeng Z; Tang, Minzhong M; Li, Li L; Mo, Linjian L; Liang, Zhengjia Z; Shi, Deyi D; Huang, Zhang Z; Huang, Xianghua X; Liu, Ming M; Liu, Qian Q; Zhang, Shijun S; Trent, Jeffrey M JM; Zheng, S Lilly SL; Xu, Jianfeng J; Mo, Zengnan Z
Publication Date: 2012-09

Variant appearance in text: rs1052693
PubMed Link: 23028341
Variant Present in the following documents:
  • Main text
  • pgen.1002916.pdf
View BVdb publication page



Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer.

Molecular Carcinogenesis
Buch, Shama C SC; Diergaarde, Brenda B; Nukui, Tomoko T; Day, Roger S RS; Siegfried, Jill M JM; Romkes, Marjorie M; Weissfeld, Joel L JL
Publication Date: 2012-10

Variant appearance in text: rs1052693
PubMed Link: 21976407
Variant Present in the following documents:
  • Main text
View BVdb publication page