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.




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