HP c.856_858delinsTGT ;(p.R286C)

Variant ID: 16-72094424-CGA-TGT

NM_005143.3(HP):c.856_858delinsTGT;(p.R286C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: HP: R286C
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Npj Genomic Medicine
Shakur, Rameen R; Ochoa, Juan Pablo JP; Robinson, Alan J AJ; Niroula, Abhishek A; Chandran, Aneesh A; Rahman, Taufiq T; Vihinen, Mauno M; Monserrat, Lorenzo L
Publication Date: 2021-06-14

Variant appearance in text: HP: Arg286Cys
PubMed Link: 34127679
Variant Present in the following documents:
  • 41525_2021_204_MOESM1_ESM.pdf
View BVdb publication page



Development of a range of fluorescent reagentless biosensors for ATP, based on malonyl-coenzyme A synthetase.

Plos One
Vancraenenbroeck, Renée R; Kunzelmann, Simone S; Webb, Martin R MR
Publication Date: 2017

Variant appearance in text: HP: R286C
PubMed Link: 28636641
Variant Present in the following documents:
  • Main text
  • pone.0179547.pdf
View BVdb publication page



A Fluorescent, Reagentless Biosensor for ATP, Based on Malonyl-Coenzyme A Synthetase.

Acs Chemical Biology
Vancraenenbroeck, Renée R; Webb, Martin R MR
Publication Date: 2015-11-20

Variant appearance in text: HP: R286C
PubMed Link: 26355992
Variant Present in the following documents:
  • cb5b00346_si_001.pdf
View BVdb publication page



Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Leonardi, Roberta R; Rock, Charles O CO; Jackowski, Suzanne S; Zhang, Yong-Mei YM
Publication Date: 2007-01-30

Variant appearance in text: HP: R286C
PubMed Link: 17242360
Variant Present in the following documents:
  • Main text
View BVdb publication page