VWF c.4944T>C ;(p.P1648=)

Variant ID: 12-6127640-A-G

NM_000552.3(VWF):c.4944T>C;(p.P1648=)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: N/A
PubMed Link: 36774361
Variant Present in the following documents:
View BVdb publication page



Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
Publication Date: 2022-10-13

Variant appearance in text: VWF: Pro1648Pro
PubMed Link: 36229065
Variant Present in the following documents:
  • LSA-2022-01551_TableS16.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs201825372
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs201825372
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Frontiers In Oncology
Bao, Chaohui C; An, Na N; Xie, Hong H; Xu, Ling L; Zhou, Boping B; Luo, Jun J; Huang, Wanqiu W; Huang, Jian J
Publication Date: 2021

Variant appearance in text: VWF: P1648P
PubMed Link: 34221990
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Translational Vision Science & Technology
Rong, Andrew J AJ; Gallo, Ryan A RA; Zhang, Michelle G MG; Doddapaneni, Ravi R; Griswold, Anthony J AJ; Lee, John Y JY; Kurtenbach, Stefan S; Dubovy, Sander R SR; Tse, David T DT; Pelaez, Daniel D
Publication Date: 2021-05-03

Variant appearance in text: VWF: P1648P; rs201825372
PubMed Link: 34043754
Variant Present in the following documents:
  • tvst-10-6-34_s001.xlsx, sheet 1
View BVdb publication page



Developing Organoids from Ovarian Cancer as Experimental and Preclinical Models.

Stem Cell Reports
Maenhoudt, Nina N; Defraye, Charlotte C; Boretto, Matteo M; Jan, Ziga Z; Heremans, Ruben R; Boeckx, Bram B; Hermans, Florian F; Arijs, Ingrid I; Cox, Benoit B; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Van Rompuy, Anne-Sophie AS; Lambrechts, Diether D; Timmerman, Dirk D; Vankelecom, Hugo H
Publication Date: 2020-04-14

Variant appearance in text: VWF: P1648P
PubMed Link: 32243841
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: VWF: 4944T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: rs201825372
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: VWF: 4944T>C
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 22
  • pone.0210079.s007.xlsx, sheet 4
  • pone.0210079.s007.xlsx, sheet 21
  • pone.0210079.s007.xlsx, sheet 18
  • pone.0210079.s007.xlsx, sheet 20
  • pone.0210079.s007.xlsx, sheet 19
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 29974678
Variant Present in the following documents:
View BVdb publication page



Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Plos One
Barøy, Tale T; Chilamakuri, Chandra S R CS; Lorenz, Susanne S; Sun, Jinchang J; Bruland, Øyvind S ØS; Myklebost, Ola O; Meza-Zepeda, Leonardo A LA
Publication Date: 2016

Variant appearance in text: VWF: P1648P
PubMed Link: 27685995
Variant Present in the following documents:
  • pone.0163859.s005.xlsx, sheet 1
View BVdb publication page



Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Oncotarget
Patil, Vikas V; Pal, Jagriti J; Somasundaram, Kumaravel K
Publication Date: 2015-12-22

Variant appearance in text: VWF: 4944T>C; P1648P
PubMed Link: 26496030
Variant Present in the following documents:
  • oncotarget-06-43452-s003.xlsx, sheet 1
View BVdb publication page



Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Nature Genetics
Le Gallo, Matthieu M; O'Hara, Andrea J AJ; Rudd, Meghan L ML; Urick, Mary Ellen ME; Hansen, Nancy F NF; O'Neil, Nigel J NJ; Price, Jessica C JC; Zhang, Suiyuan S; England, Bryant M BM; Godwin, Andrew K AK; Sgroi, Dennis C DC; , ; Hieter, Philip P; Mullikin, James C JC; Merino, Maria J MJ; Bell, Daphne W DW
Publication Date: 2012-12

Variant appearance in text: VWF: P1648P
PubMed Link: 23104009
Variant Present in the following documents:
  • NIHMS412622-supplement-7.xls, sheet 1
  • NIHMS412622-supplement-4.xls, sheet 1
View BVdb publication page