CDKN1B c.518A>G ;(p.N173S)

Variant ID: 12-12871801-A-G

NM_004064.3(CDKN1B):c.518A>G;(p.N173S)

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: rs141509450
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



Somatic alterations of CDKN1B are associated with small bowel neuroendocrine tumors.

Cancer Genetics
Maxwell, Jessica E JE; Sherman, Scott K SK; Li, Guiying G; Choi, Allen B AB; Bellizzi, Andrew M AM; O'Dorisio, Thomas M TM; Howe, James R JR
Publication Date: 2015-09-15

Variant appearance in text: CDKN1B: 518A>G; N173S
PubMed Link: 26603463
Variant Present in the following documents:
  • Main text
View BVdb publication page