CHRNA2 c.450-87C>G

Variant ID: 8-27321597-G-C

NM_000742.3(CHRNA2):c.450-87C>G

This variant was identified in 9 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: rs3735757
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: CHRNA2: 450-87C>G; rs3735757
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs3735757
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.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: CHRNA2: 450-87C>G; rs3735757
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.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: rs3735757
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, 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: rs3735757
PubMed Link: 26044620
Variant Present in the following documents:
  • Main text
  • 12918_2015_Article_167.pdf
View BVdb publication page



Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations.

Human Genetics
Wang, Shaolin S; D van der Vaart, Andrew A; Xu, Qing Q; Seneviratne, Chamindi C; Pomerleau, Ovide F OF; Pomerleau, Cynthia S CS; Payne, Thomas J TJ; Ma, Jennie Z JZ; Li, Ming D MD
Publication Date: 2014-05

Variant appearance in text: rs3735757
PubMed Link: 24253422
Variant Present in the following documents:
  • Main text
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: rs3735757
PubMed Link: 21808284
Variant Present in the following documents:
  • NIHMS305090-supplement-3.pdf
View BVdb publication page



Identification of pharmacogenetic markers in smoking cessation therapy.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Heitjan, Daniel F DF; Guo, Mengye M; Ray, Riju R; Wileyto, E Paul EP; Epstein, Leonard H LH; Lerman, Caryn C
Publication Date: 2008-09-05

Variant appearance in text: rs3735757
PubMed Link: 18165968
Variant Present in the following documents:
  • Main text
View BVdb publication page