VWF c.3438T>G ;(p.Y1146*)

Variant ID: 12-6132006-A-C

NM_000552.3(VWF):c.3438T>G;(p.Y1146*)

This variant was identified in 3 publications

View GRCh38 version.



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

Publications:

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: VWF: Y1146X
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page


Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: VWF: Y1146X
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page


Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.

Molecular Genetics & Genomic Medicine
Amr, Khalda K; Pawlikowska, Patrycja P; Aoufouchi, Said S; Rosselli, Filippo F; El-Kamah, Ghada G
Publication Date: 2019-07

Variant appearance in text: VWF: 3438T>G
PubMed Link: 31144472
Variant Present in the following documents:
  • Main text
  • MGG3-7-e00777.pdf
View BVdb publication page


Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Bmc Cancer
Wen, Hongxiu H; Kim, Yeong C YC; Snyder, Carrie C; Xiao, Fengxia F; Fleissner, Elizabeth A EA; Becirovic, Dina D; Luo, Jiangtao J; Downs, Bradley B; Sherman, Simon S; Cowan, Kenneth H KH; Lynch, Henry T HT; Wang, San Ming SM
Publication Date: 2014-06-26

Variant appearance in text: VWF: Y1146X
PubMed Link: 24969172
Variant Present in the following documents:
  • 1471-2407-14-470-S1.xlsx, sheet 3
View BVdb publication page