TG c.489C>G ;(p.S163R)

Variant ID: 8-133885317-C-G

NM_003235.4(TG):c.489C>G;(p.S163R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 489C>G
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Endothelial alpha globin is a nitrite reductase.

Nature Communications
Keller, T C Stevenson TCS; Lechauve, Christophe C; Keller, Alexander S AS; Broseghini-Filho, Gilson Brás GB; Butcher, Joshua T JT; Askew Page, Henry R HR; Islam, Aditi A; Tan, Zhe Yin ZY; DeLalio, Leon J LJ; Brooks, Steven S; Sharma, Poonam P; Hong, Kwangseok K; Xu, Wenhao W; Padilha, Alessandra Simão AS; Ruddiman, Claire A CA; Best, Angela K AK; Macal, Edgar E; Kim-Shapiro, Daniel B DB; Christ, George G; Yan, Zhen Z; Cortese-Krott, Miriam M MM; Ricart, Karina K; Patel, Rakesh R; Bender, Timothy P TP; Sonkusare, Swapnil K SK; Weiss, Mitchell J MJ; Ackerman, Hans H; Columbus, Linda L; Isakson, Brant E BE
Publication Date: 2022-10-27

Variant appearance in text: TG: 489C>G
PubMed Link: 36302779
Variant Present in the following documents:
  • 41467_2022_34154_MOESM3_ESM.xlsx, sheet 11
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: TG: 489C>G
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: TG: 489C>G
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology
Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R
Publication Date: 2019-11-19

Variant appearance in text: TG: 489C>G
PubMed Link: 31744508
Variant Present in the following documents:
  • 13045_2019_802_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Genomic landscape of high-grade meningiomas.

Npj Genomic Medicine
Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R
Publication Date: 2017

Variant appearance in text: TG: S163R
PubMed Link: 28713588
Variant Present in the following documents:
  • 41525_2017_14_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comparative Analysis of Muscle Transcriptome between Pig Genotypes Identifies Genes and Regulatory Mechanisms Associated to Growth, Fatness and Metabolism.

Plos One
Ayuso, Miriam M; Fernández, Almudena A; Núñez, Yolanda Y; Benítez, Rita R; Isabel, Beatriz B; Barragán, Carmen C; Fernández, Ana Isabel AI; Rey, Ana Isabel AI; Medrano, Juan F JF; Cánovas, Ángela Á; González-Bulnes, Antonio A; López-Bote, Clemente C; Ovilo, Cristina C
Publication Date: 2015

Variant appearance in text: TG: 489C>G
PubMed Link: 26695515
Variant Present in the following documents:
  • pone.0145162.s006.xlsx, sheet 1
View BVdb publication page