RNF5 c.328-25T>C

Variant ID: 6-32147761-T-C

NM_006913.3(RNF5):c.328-25T>C

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: rs3134943
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
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: rs3134943
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
Publication Date: 2019

Variant appearance in text: rs3134943
PubMed Link: 31134135
Variant Present in the following documents:
  • Main text
  • fgene-10-00433.pdf
View BVdb publication page



Association between RAGE variants and the susceptibility to atherosclerotic lesions in Chinese Han population.

Experimental And Therapeutic Medicine
Zhang, Xiaolin X; Cheng, Minghui M; Tong, Fangnian F; Su, Xue X
Publication Date: 2019-03

Variant appearance in text: rs3134943
PubMed Link: 30783474
Variant Present in the following documents:
  • Main text
  • etm-17-03-2019.pdf
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: rs3134943
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: rs3134943
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



Polymorphisms in key pulmonary inflammatory pathways and the development of acute respiratory distress syndrome.

Experimental Lung Research
Brown, Samuel M SM; Grissom, Colin K CK; Rondina, Matthew T MT; Hoidal, John R JR; Scholand, Mary Beth MB; Wolff, Roger K RK; Morris, Alan H AH; Paine, Robert R; ,
Publication Date: 2015-04

Variant appearance in text: rs3134943
PubMed Link: 25513711
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transcriptome analysis reveals differential splicing events in IPF lung tissue.

Plos One
Nance, Tracy T; Smith, Kevin S KS; Anaya, Vanessa V; Richardson, Rhea R; Ho, Lawrence L; Pala, Mauro M; Mostafavi, Sara S; Battle, Alexis A; Feghali-Bostwick, Carol C; Rosen, Glenn G; Montgomery, Stephen B SB
Publication Date: 2014

Variant appearance in text: rs3134943
PubMed Link: 24805851
Variant Present in the following documents:
  • pone.0097550.s001.pdf
  • pone.0097550.s002.pdf
View BVdb publication page



Transcriptome analysis reveals differential splicing events in IPF lung tissue.

Plos One
Nance, Tracy T; Smith, Kevin S KS; Anaya, Vanessa V; Richardson, Rhea R; Ho, Lawrence L; Pala, Mauro M; Mostafavi, Sara S; Battle, Alexis A; Feghali-Bostwick, Carol C; Rosen, Glenn G; Montgomery, Stephen B SB
Publication Date: 2014

Variant appearance in text: rs3134943
PubMed Link: 24647608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Efficient haplotype block recognition of very long and dense genetic sequences.

Bmc Bioinformatics
Taliun, Daniel D; Gamper, Johann J; Pattaro, Cristian C
Publication Date: 2014-01-14

Variant appearance in text: rs3134943
PubMed Link: 24423111
Variant Present in the following documents:
  • Main text
  • 1471-2105-15-10.pdf
View BVdb publication page



Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data.

Journal Of Alzheimer'S Disease : Jad
Sherva, Richard R; Baldwin, Clinton T CT; Inzelberg, Rivka R; Vardarajan, Badri B; Cupples, L Adrienne LA; Lunetta, Kathryn K; Bowirrat, Abdalla A; Naj, Adam A; Pericak-Vance, Margaret M; Friedland, Robert P RP; Farrer, Lindsay A LA
Publication Date: 2011

Variant appearance in text: rs3134943
PubMed Link: 21098978
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics
Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ
Publication Date: 2007-07-02

Variant appearance in text: rs3134943
PubMed Link: 17601350
Variant Present in the following documents:
  • Main text
  • 1471-2156-8-43.pdf
View BVdb publication page