AHNAK2 c.4022C>G ;(p.S1341C)

Variant ID: 14-105417766-G-C

NM_138420.2(AHNAK2):c.4022C>G;(p.S1341C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis.

Bmc Genomics
Wang, Mimi M; Wu, Jingyun J; Lei, Shufeng S; Mo, Xingbo X
Publication Date: 2023-03-27

Variant appearance in text: rs2396457
PubMed Link: 36973646
Variant Present in the following documents:
  • Main text
  • 12864_2023_Article_9227.pdf
View BVdb publication page



Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels.

Communications Biology
Sarnowski, Chloé C; Ghanbari, Mohsen M; Bis, Joshua C JC; Logue, Mark M; Fornage, Myriam M; Mishra, Aniket A; Ahmad, Shahzad S; Beiser, Alexa S AS; Boerwinkle, Eric E; Bouteloup, Vincent V; Chouraki, Vincent V; Cupples, L Adrienne LA; Damotte, Vincent V; DeCarli, Charles S CS; DeStefano, Anita L AL; Djoussé, Luc L; Fohner, Alison E AE; Franz, Carol E CE; Kautz, Tiffany F TF; Lambert, Jean-Charles JC; Lyons, Michael J MJ; Mosley, Thomas H TH; Mukamal, Kenneth J KJ; Pase, Matthew P MP; Portilla Fernandez, Eliana C EC; Rissman, Robert A RA; Satizabal, Claudia L CL; Vasan, Ramachandran S RS; Yaqub, Amber A; Debette, Stephanie S; Dufouil, Carole C; Launer, Lenore J LJ; Kremen, William S WS; Longstreth, William T WT; Ikram, M Arfan MA; Seshadri, Sudha S
Publication Date: 2022-04-08

Variant appearance in text: rs2396457
PubMed Link: 35396452
Variant Present in the following documents:
  • 42003_2022_3287_MOESM1_ESM.pdf
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: AHNAK2: S1341C
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: AHNAK2: S1341C
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.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: rs2396457
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: rs2396457
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page