GJB1 c.515C>G ;(p.P172R)

Variant ID: X-70444072-C-G

NM_000166.5(GJB1):c.515C>G;(p.P172R)

This variant was identified in 4 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: P172R
PubMed Link: 30042657
Variant Present in the following documents:
  • Main text
  • fnmol-11-00227.pdf
View BVdb publication page



Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology
García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD
Publication Date: 2016-05-24

Variant appearance in text: CMTX: P172R
PubMed Link: 27228968
Variant Present in the following documents:
  • Main text
  • 12860_2016_Article_92.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: GJB1: P172R
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GJB1: P172R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page