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GJB1 c.146C>A ;(p.S49Y)
Variant ID: X-70443703-C-A
NM_000166.5(
GJB1
):c.146C>A;(p.S49Y)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23
Variant appearance in text: GJB1: S49Y
PubMed Link:
33359733
Variant Present in the following documents:
Main text
View BVdb publication page
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Annals Of Clinical And Translational Neurology
Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC
Publication Date: 2019-06
Variant appearance in text: GJB1: S49Y
PubMed Link:
31211173
Variant Present in the following documents:
Main text
View BVdb publication page
Clinical and biophysical characterization of 19 GJB1 mutations.
Annals Of Clinical And Translational Neurology
Tsai, Pei-Chien PC; Yang, De-Ming DM; Liao, Yi-Chu YC; Chiu, Tai-Yu TY; Kuo, Hung-Chou HC; Su, Yu-Ping YP; Guo, Yuh-Cherng YC; Soong, Bing-Wen BW; Lin, Kon-Ping KP; Liu, Yo-Tsen YT; Lee, Yi-Chung YC
Publication Date: 2016-11
Variant appearance in text: GJB1: 146C>A
PubMed Link:
27844031
Variant Present in the following documents:
Main text
ACN3-3-854.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: S49Y
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: S49Y
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: S49Y
PubMed Link:
19139070
Variant Present in the following documents:
gkn1008_nar-01723-s-2008-File011.xls, sheet 2
gkn1008_nar-01723-s-2008-File009.xls, sheet 2
View BVdb publication page