DDRGK1 c.91+60T>A

Variant ID: 20-3185123-A-T

NM_023935.1(DDRGK1):c.91+60T>A

This variant was identified in 12 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: rs11697186
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



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: rs11697186
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: DDRGK1: 91+60T>A; rs11697186
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs11697186
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics
Zhang, Lu L; Pan, Qiuping Q; Wang, Yue Y; Wu, Xintao X; Shi, Xinghua X
Publication Date: 2019

Variant appearance in text: rs11697186
PubMed Link: 29990020
Variant Present in the following documents:
  • Main text
View BVdb publication page



UFBP1, a Key Component of the Ufm1 Conjugation System, Is Essential for Ufmylation-Mediated Regulation of Erythroid Development.

Plos Genetics
Cai, Yafei Y; Pi, Wenhu W; Sivaprakasam, Satish S; Zhu, Xiaobin X; Zhang, Mingsheng M; Chen, Jijun J; Makala, Levi L; Lu, Chunwan C; Wu, Jianchu J; Teng, Yong Y; Pace, Betty B; Tuan, Dorothy D; Singh, Nagendra N; Li, Honglin H
Publication Date: 2015-11

Variant appearance in text: rs11697186
PubMed Link: 26544067
Variant Present in the following documents:
  • Main text
  • pgen.1005643.pdf
View BVdb publication page



RCAD/Ufl1, a Ufm1 E3 ligase, is essential for hematopoietic stem cell function and murine hematopoiesis.

Cell Death And Differentiation
Zhang, M M; Zhu, X X; Zhang, Y Y; Cai, Y Y; Chen, J J; Sivaprakasam, S S; Gurav, A A; Pi, W W; Makala, L L; Wu, J J; Pace, B B; Tuan-Lo, D D; Ganapathy, V V; Singh, N N; Li, H H
Publication Date: 2015-12

Variant appearance in text: rs11697186
PubMed Link: 25952549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatitis C virus in the new era: perspectives in epidemiology, prevention, diagnostics and predictors of response to therapy.

World Journal Of Gastroenterology
Ansaldi, Filippo F; Orsi, Andrea A; Sticchi, Laura L; Bruzzone, Bianca B; Icardi, Giancarlo G
Publication Date: 2014-08-07

Variant appearance in text: rs11697186
PubMed Link: 25110404
Variant Present in the following documents:
  • Main text
View BVdb publication page



GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data.

Genome Biology
Zhao, Keyan K; Lu, Zhi-xiang ZX; Park, Juw Won JW; Zhou, Qing Q; Xing, Yi Y
Publication Date: 2013-07-22

Variant appearance in text: rs11697186
PubMed Link: 23876401
Variant Present in the following documents:
  • Main text
View BVdb publication page



DDRGK1 regulates NF-κB activity by modulating IκBα stability.

Plos One
Xi, Peng P; Ding, Deqiang D; Zhou, Junzhi J; Wang, Miao M; Cong, Yu-Sheng YS
Publication Date: 2013

Variant appearance in text: rs11697186
PubMed Link: 23675531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Host genetic variants in the pathogenesis of hepatitis C.

Viruses
Rau, Monika M; Baur, Katharina K; Geier, Andreas A
Publication Date: 2012-12

Variant appearance in text: rs11697186
PubMed Link: 23342360
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic analysis of pediatric patients with acute lymphoblastic leukemia: a possible association between survival rate and ITPA polymorphism.

Plos One
Kim, Hyery H; Kang, Hyoung Jin HJ; Kim, Hyo Jeong HJ; Jang, Mi Kyung MK; Kim, Nam Hee NH; Oh, Yongtaek Y; Han, Byoung-Don BD; Choi, Ji-Yeob JY; Kim, Chul Woo CW; Lee, Ji Won JW; Park, Kyung Duk KD; Shin, Hee Young HY; Ahn, Hyo Seop HS
Publication Date: 2012

Variant appearance in text: rs11697186
PubMed Link: 23029095
Variant Present in the following documents:
  • Main text
  • pone.0045558.pdf
View BVdb publication page