HP c.1088A>C ;(p.D363A)

Variant ID: 16-72094656-A-C

NM_005143.3(HP):c.1088A>C;(p.D363A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structural basis for effector recognition by an antibacterial type IV secretion system.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Oka, Gabriel U GU; Souza, Diorge P DP; Cenens, William W; Matsuyama, Bruno Y BY; Cardoso, Marcus V C MVC; Oliveira, Luciana C LC; da Silva Lima, Filipe F; Cuccovia, Iolanda M IM; Guzzo, Cristiane R CR; Salinas, Roberto K RK; Farah, Chuck S CS
Publication Date: 2022-01-04

Variant appearance in text: HP: D363A
PubMed Link: 34983846
Variant Present in the following documents:
  • pnas.2112529119.sapp.pdf
View BVdb publication page



GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Human Mutation
Lemos, Manuel C MC; Thakker, Rajesh V RV
Publication Date: 2015-01

Variant appearance in text: HP: 1088A>C
PubMed Link: 25219572
Variant Present in the following documents:
  • humu0036-0011-sd1.pdf
View BVdb publication page



Cis- and trans-membrane interactions of synaptotagmin-1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Vennekate, Wensi W; Schröder, Sabrina S; Lin, Chao-Chen CC; van den Bogaart, Geert G; Grunwald, Matthias M; Jahn, Reinhard R; Walla, Peter Jomo PJ
Publication Date: 2012-07-03

Variant appearance in text: HP: D363A
PubMed Link: 22711810
Variant Present in the following documents:
  • Main text
View BVdb publication page