DNMT3L c.812G>A ;(p.R271Q)

Variant ID: 21-45670790-C-T

NM_175867.2(DNMT3L):c.812G>A;(p.R271Q)

This variant was identified in 7 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: DNMT3L: R271Q; rs113593938
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: DNMT3L: R271Q
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 25
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: DNMT3L: R271Q; rs113593938
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: DNMT3L: R271Q; rs113593938
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: DNMT3L: R271Q; rs113593938
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The dynamics of nuclear receptors and nuclear receptor coregulators in the pathogenesis of endometriosis.

Human Reproduction Update
Han, Sang Jun SJ; O'Malley, Bert W BW
Publication Date: 2014

Variant appearance in text: rs113593938
PubMed Link: 24634322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk-association of DNA methyltransferases polymorphisms with gastric cancer in the Southern Chinese population.

International Journal Of Molecular Sciences
Yang, Xue-Xi XX; He, Xuan-Qiu XQ; Li, Fen-Xia FX; Wu, Ying-Song YS; Gao, Yang Y; Li, Ming M
Publication Date: 2012

Variant appearance in text: DNMT3L: Arg271Gln; rs113593938
PubMed Link: 22942708
Variant Present in the following documents:
  • Main text
  • ijms-13-08364.pdf
View BVdb publication page



Risk-association of DNA methyltransferases polymorphisms with gastric cancer in the Southern Chinese population.

International Journal Of Molecular Sciences
Yang, Xue-Xi XX; He, Xuan-Qiu XQ; Li, Fen-Xia FX; Wu, Ying-Song YS; Gao, Yang Y; Li, Ming M
Publication Date: 2012

Variant appearance in text: DNMT3L: Arg271Gln; rs113593938
PubMed Link: 22942708
Variant Present in the following documents:
  • Main text
  • ijms-13-08364.pdf
View BVdb publication page