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VWF c.4979A>C ;(p.E1660A)
Variant ID: 12-6127605-T-G
NM_000552.3(
VWF
):c.4979A>C;(p.E1660A)
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:
Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Akiyama, Masashi M; Takeda, Soichi S; Kokame, Koichi K; Takagi, Junichi J; Miyata, Toshiyuki T
Publication Date: 2009-11-17
Variant appearance in text: VWF: E1660A
PubMed Link:
19880749
Variant Present in the following documents:
Main text
View BVdb publication page
Characterization of a core binding site for ADAMTS-13 in the A2 domain of von Willebrand factor.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wu, Jing-Jiang JJ; Fujikawa, Kazuo K; McMullen, Brad A BA; Chung, Dominic W DW
Publication Date: 2006-12-05
Variant appearance in text: VWF: Glu1660Ala
PubMed Link:
17121983
Variant Present in the following documents:
Main text
View BVdb publication page