HMGCR c.932A>C ;(p.Y311S)

Variant ID: 5-74646765-A-C

NM_000859.2(HMGCR):c.932A>C;(p.Y311S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: rs191835914
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s010.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: HMGCR: Y311S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs191835914
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
Lu, Xiangfeng X; Peloso, Gina M GM; Liu, Dajiang J DJ; Wu, Ying Y; Zhang, He H; Zhou, Wei W; Li, Jun J; Tang, Clara Sze-Man CS; Dorajoo, Rajkumar R; Li, Huaixing H; Long, Jirong J; Guo, Xiuqing X; Xu, Ming M; Spracklen, Cassandra N CN; Chen, Yang Y; Liu, Xuezhen X; Zhang, Yan Y; Khor, Chiea Chuen CC; Liu, Jianjun J; Sun, Liang L; Wang, Laiyuan L; Gao, Yu-Tang YT; Hu, Yao Y; Yu, Kuai K; Wang, Yiqin Y; Cheung, Chloe Yu Yan CYY; Wang, Feijie F; Huang, Jianfeng J; Fan, Qiao Q; Cai, Qiuyin Q; Chen, Shufeng S; Shi, Jinxiu J; Yang, Xueli X; Zhao, Wanting W; Sheu, Wayne H-H WH; Cherny, Stacey Shawn SS; He, Meian M; Feranil, Alan B AB; Adair, Linda S LS; Gordon-Larsen, Penny P; Du, Shufa S; Varma, Rohit R; Chen, Yii-Der Ida YI; Shu, Xiao-Ou XO; Lam, Karen Siu Ling KSL; Wong, Tien Yin TY; Ganesh, Santhi K SK; Mo, Zengnan Z; Hveem, Kristian K; Fritsche, Lars G LG; Nielsen, Jonas Bille JB; Tse, Hung-Fat HF; Huo, Yong Y; Cheng, Ching-Yu CY; Chen, Y Eugene YE; Zheng, Wei W; Tai, E Shyong ES; Gao, Wei W; Lin, Xu X; Huang, Wei W; Abecasis, Goncalo G; , ; Kathiresan, Sekar S; Mohlke, Karen L KL; Wu, Tangchun T; Sham, Pak Chung PC; Gu, Dongfeng D; Willer, Cristen J CJ
Publication Date: 2017-12

Variant appearance in text: HMGCR: Tyr311Ser; rs191835914
PubMed Link: 29083407
Variant Present in the following documents:
  • Main text
View BVdb publication page