GJB1 c.650G>C ;(p.C217S)

Variant ID: X-70444207-G-C

NM_000166.5(GJB1):c.650G>C;(p.C217S)

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:

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: CMTX: C217S
PubMed Link: 22342665
Variant Present in the following documents:
  • Main text
View BVdb publication page