GJB1 c.382T>C ;(p.S128P)

Variant ID: X-70443939-T-C

NM_000166.5(GJB1):c.382T>C;(p.S128P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: S128P
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: S128P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Trifluoroethanol reveals helical propensity at analogous positions in cytoplasmic domains of three connexins.

Biopolymers
Fort, Alfredo G AG; Spray, David C DC
Publication Date: 2009

Variant appearance in text: CMTX: S128P
PubMed Link: 19226516
Variant Present in the following documents:
  • Main text
View BVdb publication page