VWF c.4378C>T ;(p.L1460F)

Variant ID: 12-6128206-G-A

NM_000552.3(VWF):c.4378C>T;(p.L1460F)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: VWF: L1460F
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page


Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.

The Journal Of Biological Chemistry
Blenner, Mark A MA; Dong, Xianchi X; Springer, Timothy A TA
Publication Date: 2014-02-28

Variant appearance in text: VWF: L1460F
PubMed Link: 24391089
Variant Present in the following documents:
  • Main text
View BVdb publication page