VWF c.4160G>T ;(p.S1387I)

Variant ID: 12-6128424-C-A

NM_000552.3(VWF):c.4160G>T;(p.S1387I)

This variant was identified in 5 publications

View GRCh38 version.




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: S1387I
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Translational medicine advances in von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Lillicrap, D D
Publication Date: 2013-06

Variant appearance in text: VWF: S1387I
PubMed Link: 23809112
Variant Present in the following documents:
  • Main text
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Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Larsen, D M DM; Haberichter, S L SL; Gill, J C JC; Shapiro, A D AD; Flood, V H VH
Publication Date: 2013-07

Variant appearance in text: VWF: S1387I
PubMed Link: 23496210
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular characterization of von Willebrand disease: good in parts.

British Journal Of Haematology
James, P D PD; Lillicrap, D D
Publication Date: 2013-04

Variant appearance in text: VWF: S1387I
PubMed Link: 23406206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Bellissimo, D B DB; Friedman, K D KD; Haberichter, S L SL; Lentz, S R SR; Montgomery, R R RR
Publication Date: 2012-07

Variant appearance in text: VWF: S1387I
PubMed Link: 22507569
Variant Present in the following documents:
  • Main text
View BVdb publication page