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GJB1 c.311A>C ;(p.K104T)
Variant ID: X-70443868-A-C
NM_000166.5(
GJB1
):c.311A>C;(p.K104T)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.
Frontiers In Neuroscience
Chu, Fan F; Xu, Jiaming J; Wang, Yong Y; Li, Yingjie Y; Wang, Yaling Y; Liu, Zhijun Z; Li, Chuanzhou C
Publication Date: 2022
Variant appearance in text: GJB1: 311A>C
PubMed Link:
36225735
Variant Present in the following documents:
fnins-16-972288.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: K104T
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: K104T
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page