GJB1 c.223_224delinsGA ;(p.R75E)

Variant ID: X-70443780-CG-GA

NM_000166.5(GJB1):c.223_224delinsGA;(p.R75E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: R75E
PubMed Link: 23209285
Variant Present in the following documents:
  • Main text
View BVdb publication page