VWF c.3281T>C ;(p.I1094T)

Variant ID: 12-6132895-A-G

NM_000552.3(VWF):c.3281T>C;(p.I1094T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 3281T>C; Ile1094Thr; rs267607317
PubMed Link: 34272389
Variant Present in the following documents:
  • 41525_2021_228_MOESM1_ESM.pdf
View BVdb publication page



A higher ctDNA fraction decreases survival in regorafenib-treated metastatic colorectal cancer patients. Results from the regorafenib's liquid biopsy translational biomarker phase II pilot study.

International Journal Of Cancer
Unseld, Matthias M; Belic, Jelena J; Pierer, Kerstin K; Zhou, Qing Q; Moser, Tina T; Bauer, Raimund R; Piringer, Gudrun G; Gerger, Armin A; Siebenhüner, Alexander A; Speicher, Michael M; Heitzer, Ellen E; Prager, Gerald W GW
Publication Date: 2021-03-15

Variant appearance in text: VWF: 3281T>C; Ile1094Thr
PubMed Link: 32949150
Variant Present in the following documents:
  • IJC-148-1452-s003.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: VWF: 3281T>C; Ile1094Thr; rs267607317
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.

Thrombosis Research
White-Adams, Tara C TC; Ng, Christopher J CJ; Jacobi, Paula M PM; Haberichter, Sandra L SL; Di Paola, Jorge A JA
Publication Date: 2016-09

Variant appearance in text: VWF: 3281T>C; I1094T
PubMed Link: 27533707
Variant Present in the following documents:
  • Main text
View BVdb publication page