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VCAN c.1192G>A ;(p.V398M)
Variant ID: 5-82815317-G-A
NM_004385.4(
VCAN
):c.1192G>A;(p.V398M)
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:
Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.
Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022
Variant appearance in text: VCAN: 1192G>A; Val398Met; rs186214606
PubMed Link:
36386804
Variant Present in the following documents:
Table1.xls, sheet 1
View BVdb publication page
Combined analysis of whole-exon sequencing and lncRNA sequencing in type 2 diabetes mellitus patients with obesity.
Journal Of Cellular And Molecular Medicine
An, Tian T; Zhang, Jing J; Liu, Yu-Fei YF; Wu, Yan-Xiang YX; Lian, Juan J; Wang, Ting-Ye TY; Hu, Yuan-Yuan YY; Zhu, Jia-Jian JJ; Huang, Jiangpinghao J; Zhao, Dan-Dan DD; Mo, Fang-Fang FF; Gao, Si-Hua SH; Jiang, Guang-Jian GJ
Publication Date: 2020-02
Variant appearance in text: rs186214606
PubMed Link:
31957265
Variant Present in the following documents:
Main text
JCMM-24-2451.pdf
View BVdb publication page
Regulatory RNA binding proteins contribute to the transcriptome-wide splicing alterations in human cellular senescence.
Aging
Dong, Qiongye Q; Wei, Lei L; Zhang, Michael Q MQ; Wang, Xiaowo X
Publication Date: 2018-06-24
Variant appearance in text: VCAN: V398M; rs186214606
PubMed Link:
29936497
Variant Present in the following documents:
aging-10-101485-s002.xlsx, sheet 10
View BVdb publication page