EFR3B c.2421T>G ;(p.Y807*)

Variant ID: 2-25377176-T-G

NM_014971.1(EFR3B):c.2421T>G;(p.Y807*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: rs2164808
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide epistasis analysis for Alzheimer's disease and implications for genetic risk prediction.

Alzheimer'S Research & Therapy
Wang, Hui H; Bennett, David A DA; De Jager, Philip L PL; Zhang, Qing-Ye QY; Zhang, Hong-Yu HY
Publication Date: 2021-03-04

Variant appearance in text: rs2164808
PubMed Link: 33663605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate Genes for Age at Menarche Are Associated With Uterine Leiomyoma.

Frontiers In Genetics
Ponomarenko, Irina I; Reshetnikov, Evgeny E; Polonikov, Alexey A; Verzilina, Irina I; Sorokina, Inna I; Yermachenko, Anna A; Dvornyk, Volodymyr V; Churnosov, Mikhail M
Publication Date: 2020

Variant appearance in text: rs2164808
PubMed Link: 33552117
Variant Present in the following documents:
  • Main text
  • fgene-11-512940.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2164808
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2164808
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.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: rs2164808
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal
Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV
Publication Date: 2012-12

Variant appearance in text: rs2164808
PubMed Link: 21808284
Variant Present in the following documents:
  • NIHMS305090-supplement-3.pdf
View BVdb publication page



A large-scale candidate gene association study of age at menarche and age at natural menopause.

Human Genetics
He, Chunyan C; Kraft, Peter P; Chasman, Daniel I DI; Buring, Julie E JE; Chen, Constance C; Hankinson, Susan E SE; Paré, Guillaume G; Chanock, Stephen S; Ridker, Paul M PM; Hunter, David J DJ
Publication Date: 2010-11

Variant appearance in text: rs2164808
PubMed Link: 20734064
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.

Human Molecular Genetics
Canzian, Federico F; Cox, David G DG; Setiawan, V Wendy VW; Stram, Daniel O DO; Ziegler, Regina G RG; Dossus, Laure L; Beckmann, Lars L; Blanché, Hélène H; Barricarte, Aurelio A; Berg, Christine D CD; Bingham, Sheila S; Buring, Julie J; Buys, Saundra S SS; Calle, Eugenia E EE; Chanock, Stephen J SJ; Clavel-Chapelon, Françoise F; DeLancey, John Oliver L JO; Diver, W Ryan WR; Dorronsoro, Miren M; Haiman, Christopher A CA; Hallmans, Göran G; Hankinson, Susan E SE; Hunter, David J DJ; Hüsing, Anika A; Isaacs, Claudine C; Khaw, Kay-Tee KT; Kolonel, Laurence N LN; Kraft, Peter P; Le Marchand, Loïc L; Lund, Eiliv E; Overvad, Kim K; Panico, Salvatore S; Peeters, Petra H M PH; Pollak, Michael M; Thun, Michael J MJ; Tjønneland, Anne A; Trichopoulos, Dimitrios D; Tumino, Rosario R; Yeager, Meredith M; Hoover, Robert N RN; Riboli, Elio E; Thomas, Gilles G; Henderson, Brian E BE; Kaaks, Rudolf R; Feigelson, Heather Spencer HS
Publication Date: 2010-10-01

Variant appearance in text: rs2164808
PubMed Link: 20634197
Variant Present in the following documents:
  • Main text
View BVdb publication page



The opioid peptides enkephalin and beta-endorphin in alcohol dependence.

Biological Psychiatry
Racz, Ildiko I; Schürmann, Britta B; Karpushova, Anna A; Reuter, Martin M; Cichon, Sven S; Montag, Christian C; Fürst, Robert R; Schütz, Christian C; Franke, Petra E PE; Strohmaier, Jana J; Wienker, Thomas F TF; Terenius, Lars L; Osby, Urban U; Gunnar, Agneta A; Maier, Wolfgang W; Bilkei-Gorzó, Andras A; Nöthen, Markus M; Zimmer, Andreas A
Publication Date: 2008-12-01

Variant appearance in text: rs2164808
PubMed Link: 18589403
Variant Present in the following documents:
  • Main text
View BVdb publication page