GJB1 c.223_225delinsGAC ;(p.R75D)

Variant ID: X-70443780-CGG-GAC

NM_000166.5(GJB1):c.223_225delinsGAC;(p.R75D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience
Bortolozzi, Mario M
Publication Date: 2018

Variant appearance in text: GJB1: R75D
PubMed Link: 30042657
Variant Present in the following documents:
  • Main text
  • fnmol-11-00227.pdf
View BVdb publication page



Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.

The Journal Of Biological Chemistry
Abrams, Charles K CK; Islam, Mahee M; Mahmoud, Rola R; Kwon, Taekyung T; Bargiello, Thaddeus A TA; Freidin, Mona M MM
Publication Date: 2013-02-01

Variant appearance in text: GJB1: R75D
PubMed Link: 23209285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Brain Research
Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X
Publication Date: 2009-06-24

Variant appearance in text: GJB1: R75D
PubMed Link: 19230829
Variant Present in the following documents:
  • Main text
View BVdb publication page