SRM c.655G>A ;(p.E219K)

Variant ID: 1-11115948-C-T

NM_003132.2(SRM):c.655G>A;(p.E219K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs374351720
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Allosteric modulators of steroid hormone receptors: structural dynamics and gene regulation.

Endocrine Reviews
Kumar, Raj R; McEwan, Iain J IJ
Publication Date: 2012-04

Variant appearance in text: SRM: E219K
PubMed Link: 22433123
Variant Present in the following documents:
  • Main text
View BVdb publication page