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VWF c.4916T>C ;(p.L1639P)
Variant ID: 12-6127668-A-G
NM_000552.3(
VWF
):c.4916T>C;(p.L1639P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: VWF: L1639P; rs61750589
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Qing Q; Zhou, Yan-Feng YF; Zhang, Cheng-Zhong CZ; Zhang, Xiaohui X; Lu, Chafen C; Springer, Timothy A TA
Publication Date: 2009-06-09
Variant appearance in text: VWF: L1639P
PubMed Link:
19470641
Variant Present in the following documents:
Main text
View BVdb publication page