VWF c.3952G>T ;(p.V1318L)

Variant ID: 12-6128632-C-A

NM_000552.3(VWF):c.3952G>T;(p.V1318L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Complement and Coagulation Cascades Pathway is Associated with Acute Necrotizing Pancreatitis by Genomics and Proteomics Analysis.

Journal Of Inflammation Research
Zhang, Xinyu X; Li, Zenghui Z; Liu, Wei W; Du, Juanjuan J; Liu, Yun Y; Yu, Ningjun N; Liu, Chao C; Zeng, Mei M; Zhang, Xiaoming X
Publication Date: 2022

Variant appearance in text: rs372028373
PubMed Link: 35444447
Variant Present in the following documents:
  • Main text
  • jir-15-2349.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs372028373
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: VWF: V1318L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
  • 12859_2015_673_MOESM2_ESM.xls, sheet 1
View BVdb publication page