SLC44A4 c.813C>A ;(p.Y271*)

Variant ID: 6-31838713-G-T

NM_025257.2(SLC44A4):c.813C>A;(p.Y271*)

This variant was identified in 15 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: rs494620
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Exploring genes for immunoglobulin A nephropathy: a summary data-based mendelian randomization and FUMA analysis.

Bmc Medical Genomics
Zhang, Qian Q; Zhang, Kang K; Zhu, Yining Y; Yuan, Guangwei G; Yang, Jingyun J; Zhang, Minmin M
Publication Date: 2023-01-29

Variant appearance in text: rs494620
PubMed Link: 36709307
Variant Present in the following documents:
  • Main text
  • 12920_2023_Article_1436.pdf
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: rs494620
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Relationship between genetically determined telomere length and glioma risk.

Neuro-Oncology
Saunders, Charlie N CN; Kinnersley, Ben B; Culliford, Richard R; Cornish, Alex J AJ; Law, Philip J PJ; Houlston, Richard S RS
Publication Date: 2021-09-03

Variant appearance in text: rs494620
PubMed Link: 34477880
Variant Present in the following documents:
  • Main text
  • noab208.pdf
View BVdb publication page



Relationship between genetically determined telomere length and glioma risk.

Neuro-Oncology
Saunders, Charlie N CN; Kinnersley, Ben B; Culliford, Richard R; Cornish, Alex J AJ; Law, Philip J PJ; Houlston, Richard S RS
Publication Date: 2022-02-01

Variant appearance in text: rs494620
PubMed Link: 34477880
Variant Present in the following documents:
  • Main text
  • noab208.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: rs494620
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
View BVdb publication page



Transcriptome-Wide Association Study Identifies Susceptibility Loci and Genes for Age at Natural Menopause.

Reproductive Sciences (Thousand Oaks, Calif.)
Shi, Jiajun J; Wu, Lang L; Li, Bingshan B; Lu, Yingchang Y; Guo, Xingyi X; Cai, Qiuyin Q; Long, Jirong J; Wen, Wanqing W; Zheng, Wei W; Shu, Xiao-Ou XO
Publication Date: 2019-04

Variant appearance in text: rs494620
PubMed Link: 29848177
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations, reproductive aging, and breast cancer risk in African American and European American women: The Women's Circle of Health Study.

Plos One
Coignet, Marie V MV; Zirpoli, Gary Robert GR; Roberts, Michelle R MR; Khoury, Thaer T; Bandera, Elisa V EV; Zhu, Qianqian Q; Yao, Song S
Publication Date: 2017

Variant appearance in text: rs494620
PubMed Link: 29073238
Variant Present in the following documents:
  • Main text
  • pone.0187205.pdf
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: rs494620
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.pdf
View BVdb publication page



Genome-Wide Association Studies of HIV-1 Host Control in Ethnically Diverse Chinese Populations.

Scientific Reports
Wei, Zejun Z; Liu, Yang Y; Xu, Heng H; Tang, Kun K; Wu, Hao H; Lu, Lin L; Wang, Zhe Z; Chen, Zhengjie Z; Xu, Junjie J; Zhu, Yufei Y; Hu, Landian L; Shang, Hong H; Zhao, Guoping G; Kong, Xiangyin X
Publication Date: 2015-06-03

Variant appearance in text: rs494620
PubMed Link: 26039976
Variant Present in the following documents:
  • Main text
  • srep10879.pdf
View BVdb publication page



GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity
Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO
Publication Date: 2014-09

Variant appearance in text: rs494620
PubMed Link: 24871463
Variant Present in the following documents:
  • NIHMS583203-supplement-1.pdf
View BVdb publication page



Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity
Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J
Publication Date: 2014

Variant appearance in text: rs494620
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 2
  • NIHMS580846-supplement-1.xlsx, sheet 3
View BVdb publication page



Sex- and age-interacting eQTLs in human complex diseases.

Human Molecular Genetics
Yao, Chen C; Joehanes, Roby R; Johnson, Andrew D AD; Huan, Tianxiao T; Esko, Tõnu T; Ying, Saixia S; Freedman, Jane E JE; Murabito, Joanne J; Lunetta, Kathryn L KL; Metspalu, Andres A; Munson, Peter J PJ; Levy, Daniel D
Publication Date: 2014-04-01

Variant appearance in text: rs494620
PubMed Link: 24242183
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.

Plos One
Lucas, Gavin G; Lluís-Ganella, Carla C; Subirana, Isaac I; Musameh, Muntaser D MD; Gonzalez, Juan Ramon JR; Nelson, Christopher P CP; Sentí, Mariano M; , ; , ; Schwartz, Stephen M SM; Siscovick, David D; O'Donnell, Christopher J CJ; Melander, Olle O; Salomaa, Veikko V; Purcell, Shaun S; Altshuler, David D; Samani, Nilesh J NJ; Kathiresan, Sekar S; Elosua, Roberto R
Publication Date: 2012

Variant appearance in text: rs494620
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.pdf
View BVdb publication page



Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.

Human Molecular Genetics
Chen, Christina T L CT; Fernández-Rhodes, Lindsay L; Brzyski, Robert G RG; Carlson, Christopher S CS; Chen, Zhao Z; Heiss, Gerardo G; North, Kari E KE; Woods, Nancy F NF; Rajkovic, Aleksandar A; Kooperberg, Charles C; Franceschini, Nora N
Publication Date: 2012-03-15

Variant appearance in text: rs494620
PubMed Link: 22131368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of HSP70 gene expression following heat shock.

Human Molecular Genetics
Maugeri, Narelle N; Radhakrishnan, Jayachandran J; Knight, Julian C JC
Publication Date: 2010-12-15

Variant appearance in text: rs494620
PubMed Link: 20876613
Variant Present in the following documents:
  • supp_ddq418_ddq418supp.pdf
View BVdb publication page