VWF c.5384C>T ;(p.A1795V)

Variant ID: 12-6125326-G-A

NM_000552.3(VWF):c.5384C>T;(p.A1795V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: VWF: 5384C>T; A1795V
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine
Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N
Publication Date: 2021-07-16

Variant appearance in text: VWF: 5384C>T; Ala1795Val; rs146729537
PubMed Link: 34272389
Variant Present in the following documents:
  • 41525_2021_228_MOESM1_ESM.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: VWF: A1795V
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 39
View BVdb publication page



Group association test using a hidden Markov model.

Biostatistics (Oxford, England)
Cheng, Yichen Y; Dai, James Y JY; Kooperberg, Charles C
Publication Date: 2016-04

Variant appearance in text: VWF: Ala1795Val; rs146729537
PubMed Link: 26420797
Variant Present in the following documents:
  • Main text
View BVdb publication page



VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood
Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR
Publication Date: 2012-03-01

Variant appearance in text: VWF: A1795V
PubMed Link: 22197721
Variant Present in the following documents:
  • Main text
View BVdb publication page