TEKT4 c.244C>A ;(p.R82S)

Variant ID: 2-95537568-C-A

NM_144705.2(TEKT4):c.244C>A;(p.R82S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications
Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J
Publication Date: 2021-12-06

Variant appearance in text: TEKT4: R82S
PubMed Link: 34873156
Variant Present in the following documents:
  • 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications
Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J
Publication Date: 2021-12-06

Variant appearance in text: TEKT4: R82S
PubMed Link: 34873156
Variant Present in the following documents:
  • 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs80243548
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.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: rs80243548
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page