GJB1 c.257C>A ;(p.T86N)

Variant ID: X-70443814-C-A

NM_000166.5(GJB1):c.257C>A;(p.T86N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: T86N
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: T86N
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: T86N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page