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HGS c.1200G>C ;(p.E400D)
Variant ID: 17-79662836-G-C
NM_004712.4(
HGS
):c.1200G>C;(p.E400D)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.
Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022
Variant appearance in text: rs34868130
PubMed Link:
36582804
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.
Frontiers In Genetics
Abramovs, Nikita N; Brass, Andrew A; Tassabehji, May M
Publication Date: 2020
Variant appearance in text: HGS: 1200G>C; Glu400Asp; rs34868130
PubMed Link:
32231685
Variant Present in the following documents:
Data_Sheet_1.xlsx, sheet 1
View BVdb publication page
Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.
Annals Of The Rheumatic Diseases
Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S
Publication Date: 2018-11
Variant appearance in text: HGS: E400D; rs34868130
PubMed Link:
30030262
Variant Present in the following documents:
annrheumdis-2018-213524supp002.xlsx, sheet 1
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: rs34868130
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: HGS: E400D
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page