SPA17 c.377G>A ;(p.R126Q)

Variant ID: 11-124564263-G-A

NM_017425.3(SPA17):c.377G>A;(p.R126Q)

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: rs370998887
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



Low-grade prostate cancer diverges early from high grade and metastatic disease.

Cancer Science
VanderWeele, David J DJ; Brown, Christopher D CD; Taxy, Jerome B JB; Gillard, Marc M; Hatcher, David M DM; Tom, Westin R WR; Stadler, Walter M WM; White, Kevin P KP
Publication Date: 2014-08

Variant appearance in text: SPA17: R126Q
PubMed Link: 24890684
Variant Present in the following documents:
  • cas0105-1079-SD1.xlsx, sheet 2
View BVdb publication page