CHRNA2 c.65C>A ;(p.T22N)

Variant ID: 8-27328511-G-T

NM_000742.3(CHRNA2):c.65C>A;(p.T22N)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2472553
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs2472553
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs2472553
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women.

Bmc Medical Genetics
Tomaz, Paulo Roberto Xavier PRX; Santos, Juliana Rocha JR; Scholz, Jaqueline J; Abe, Tânia Ogawa TO; Gaya, Patrícia Viviane PV; Negrão, André Brooking AB; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC; Santos, Paulo Caleb Júnior Lima PCJL
Publication Date: 2018-04-05

Variant appearance in text: rs2472553
PubMed Link: 29621993
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_571.pdf
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: rs2472553
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A Novel Tobacco Use Phenotype Suggests the 15q25 and 19q13 Loci May be Differentially Associated With Cigarettes per Day and Tobacco-Related Problems.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco
Richmond-Rakerd, Leah S LS; Otto, Jacqueline M JM; Slutske, Wendy S WS; Ehlers, Cindy L CL; Wilhelmsen, Kirk C KC; Gizer, Ian R IR
Publication Date: 2017-04-01

Variant appearance in text: rs2472553
PubMed Link: 27663783
Variant Present in the following documents:
  • Main text
View BVdb publication page



Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.

Molecular Psychiatry
Yang, J J; Li, M D MD
Publication Date: 2016-08

Variant appearance in text: rs2472553
PubMed Link: 27166759
Variant Present in the following documents:
  • Main text
  • nihms-767542.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2472553
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.

Bmc Systems Biology
Reyes-Gibby, Cielito C CC; Yuan, Christine C; Wang, Jian J; Yeung, Sai-Ching J SC; Shete, Sanjay S
Publication Date: 2015-06-05

Variant appearance in text: rs2472553
PubMed Link: 26044620
Variant Present in the following documents:
  • Main text
  • 12918_2015_Article_167.pdf
View BVdb publication page



A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function.

Neuropharmacology
Dash, Bhagirathi B; Lukas, Ronald J RJ; Li, Ming D MD
Publication Date: 2014-04

Variant appearance in text: rs2472553
PubMed Link: 24467848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2472553
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Genome-wide association study for atopy and allergic rhinitis in a Singapore Chinese population.

Plos One
Andiappan, Anand Kumar AK; Wang, De Yun de Y; Anantharaman, Ramani R; Parate, Pallavi Nilkanth PN; Suri, Bani Kaur BK; Low, Hui Qi HQ; Li, Yi Y; Zhao, Wanting W; Castagnoli, Paola P; Liu, Jianjun J; Chew, Fook Tim FT
Publication Date: 2011

Variant appearance in text: rs2472553
PubMed Link: 21625490
Variant Present in the following documents:
  • Main text
  • pone.0019719.pdf
View BVdb publication page



Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes.

The Pharmacogenomics Journal
Swan, G E GE; Javitz, H S HS; Jack, L M LM; Wessel, J J; Michel, M M; Hinds, D A DA; Stokowksi, R P RP; McClure, J B JB; Catz, S L SL; Richards, J J; Zbikowski, S M SM; Deprey, M M; McAfee, T T; Conti, D V DV; Bergen, A W AW
Publication Date: 2012-08

Variant appearance in text: rs2472553
PubMed Link: 21606948
Variant Present in the following documents:
  • Main text
View BVdb publication page



Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence.

Human Genetics
Culverhouse, Robert C RC; Saccone, Nancy L NL; Stitzel, Jerry A JA; Wang, Jen C JC; Steinbach, Joseph H JH; Goate, Alison M AM; Schwantes-An, Tae-Hwi TH; Grucza, Richard A RA; Stevens, Victoria L VL; Bierut, Laura J LJ
Publication Date: 2011-02

Variant appearance in text: rs2472553
PubMed Link: 21079997
Variant Present in the following documents:
  • Main text
View BVdb publication page



Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Wessel, Jennifer J; McDonald, Sarah M SM; Hinds, David A DA; Stokowski, Renee P RP; Javitz, Harold S HS; Kennemer, Michael M; Krasnow, Ruth R; Dirks, William W; Hardin, Jill J; Pitts, Steven J SJ; Michel, Martha M; Jack, Lisa L; Ballinger, Dennis G DG; McClure, Jennifer B JB; Swan, Gary E GE; Bergen, Andrew W AW
Publication Date: 2010-11

Variant appearance in text: rs2472553
PubMed Link: 20736995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco
Philibert, Robert A RA; Todorov, Alexandre A; Andersen, Allan A; Hollenbeck, Nancy N; Gunter, Tracy T; Heath, Andrew A; Madden, Pamela P
Publication Date: 2009-03

Variant appearance in text: rs2472553
PubMed Link: 19307444
Variant Present in the following documents:
  • Main text
View BVdb publication page