ASTN1 c.3734G>A ;(p.R1245H)

Variant ID: 1-176833571-C-T

NM_004319.1(ASTN1):c.3734G>A;(p.R1245H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21

Variant appearance in text: ASTN1: R1245H
PubMed Link: 35449156
Variant Present in the following documents:
  • 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: ASTN1: R1245H; rs148482637
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.

European Journal Of Human Genetics : Ejhg
Wang, Heming H; Nandakumar, Priyanka P; Tekola-Ayele, Fasil F; Tayo, Bamidele O BO; Ware, Erin B EB; Gu, C Charles CC; Lu, Yingchang Y; Yao, Jie J; Zhao, Wei W; Smith, Jennifer A JA; Hellwege, Jacklyn N JN; Guo, Xiuqing X; Edwards, Todd L TL; Loos, Ruth J F RJF; Arnett, Donna K DK; Fornage, Myriam M; Rotimi, Charles C; Kardia, Sharon L R SLR; Cooper, Richard S RS; Rao, D C DC; Ehret, Georg G; Chakravarti, Aravinda A; Zhu, Xiaofeng X
Publication Date: 2019-02

Variant appearance in text: rs148482637
PubMed Link: 30262922
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: ASTN1: 3734G>A; R1245H
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-6.xlsx, sheet 1
View BVdb publication page