GJB1 c.397T>A ;(p.W133R)

Variant ID: X-70443954-T-A

NM_000166.5(GJB1):c.397T>A;(p.W133R)

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: W133R
PubMed Link: 30042657
Variant Present in the following documents:
  • Main text
  • fnmol-11-00227.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: W133R
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: W133R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: GJB1: W133R
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 4
View BVdb publication page