VWF c.1060G>A ;(p.G354R)

Variant ID: 12-6181546-C-T

NM_000552.3(VWF):c.1060G>A;(p.G354R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: VWF: G354R; rs760061887
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: 1060G>A; G354R
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Molecular and immunological features of a prolonged exceptional responder with malignant pleural mesothelioma treated initially and rechallenged with pembrolizumab.

Journal For Immunotherapy Of Cancer
Minchom, Anna A; Yuan, Wei W; Crespo, Mateus M; Gurel, Bora B; Figueiredo, Ines I; Wotherspoon, Andrew A; Miranda, Susana S; Riisnaes, Ruth R; Ferreira, Ana A; Bertan, Claudia C; Pereira, Rita R; Clarke, Matt M; Baker, Chloe C; Ang, Joo Ern JE; Fotiadis, Nicos N; Tunariu, Nina N; Carreira, Suzanne S; Popat, Sanjay S; O'Brien, Mary M; Banerji, Udai U; de Bono, Johann J; Lopez, Juanita J
Publication Date: 2020-03

Variant appearance in text: VWF: 1060G>A
PubMed Link: 32169873
Variant Present in the following documents:
  • Main text
  • jitc-2020-000713.pdf
View BVdb publication page