GJB1 c.505G>A ;(p.D169N)

Variant ID: X-70444062-G-A

NM_000166.5(GJB1):c.505G>A;(p.D169N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural basis for the selective permeability of channels made of communicating junction proteins.

Biochimica Et Biophysica Acta
Ek-Vitorin, Jose F JF; Burt, Janis M JM
Publication Date: 2013-01

Variant appearance in text: CX32: D169N
PubMed Link: 22342665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis of calcium regulation in connexin-32 hemichannels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gómez-Hernández, Juan M JM; de Miguel, Marta M; Larrosa, Belen B; González, Daniel D; Barrio, Luis C LC
Publication Date: 2003-12-23

Variant appearance in text: CMTX: D169N
PubMed Link: 14663144
Variant Present in the following documents:
  • Main text
View BVdb publication page