FRK c.1085T>C ;(p.V362A)

Variant ID: 6-116265462-A-G

NM_002031.2(FRK):c.1085T>C;(p.V362A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole Exome Sequencing of HIV-1 long-term non-progressors identifies rare variants in genes encoding innate immune sensors and signaling molecules.

Scientific Reports
Nissen, Sara Konstantin SK; Christiansen, Mette M; Helleberg, Marie M; Kjær, Kathrine K; Jørgensen, Sofie Eg SE; Gerstoft, Jan J; Katzenstein, Terese L TL; Benfield, Thomas T; Kronborg, Gitte G; Larsen, Carsten S CS; Laursen, Alex A; Pedersen, Gitte G; Jakobsen, Martin R MR; Tolstrup, Martin M; Mogensen, Trine H TH
Publication Date: 2018-10-15

Variant appearance in text: FRK: 1085T>C; V362A
PubMed Link: 30323326
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_33481.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs146191498
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: FRK: 1085T>C; V362A; rs146191498
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page