HR c.396G>T ;(p.K132N)

Variant ID: 8-21986288-C-A

NM_005144.4(HR):c.396G>T;(p.K132N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Dynamics of Tumor and Immune Responses during Immune Checkpoint Blockade in Non-Small Cell Lung Cancer.

Cancer Research
Anagnostou, Valsamo V; Forde, Patrick M PM; White, James R JR; Niknafs, Noushin N; Hruban, Carolyn C; Naidoo, Jarushka J; Marrone, Kristen K; Sivakumar, I K Ashok IKA; Bruhm, Daniel C DC; Rosner, Samuel S; Phallen, Jillian J; Leal, Alessandro A; Adleff, Vilmos V; Smith, Kellie N KN; Cottrell, Tricia R TR; Rhymee, Lamia L; Palsgrove, Doreen N DN; Hann, Christine L CL; Levy, Benjamin B; Feliciano, Josephine J; Georgiades, Christos C; Verde, Franco F; Illei, Peter P; Li, Qing Kay QK; Gabrielson, Edward E; Brock, Malcolm V MV; Isbell, James M JM; Sauter, Jennifer L JL; Taube, Janis J; Scharpf, Robert B RB; Karchin, Rachel R; Pardoll, Drew M DM; Chaft, Jamie E JE; Hellmann, Matthew D MD; Brahmer, Julie R JR; Velculescu, Victor E VE
Publication Date: 2019-03-15

Variant appearance in text: HR: K132N
PubMed Link: 30541742
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease
Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V
Publication Date: 2011-02

Variant appearance in text: HR: K132N
PubMed Link: 20821054
Variant Present in the following documents:
  • 10545_2011_Article_9371.pdf
View BVdb publication page