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VWF c.4816A>C ;(p.M1606L)
Variant ID: 12-6127768-T-G
NM_000552.3(
VWF
):c.4816A>C;(p.M1606L)
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:
Unraveling the scissile bond: how ADAMTS13 recognizes and cleaves von Willebrand factor.
Blood
Crawley, James T B JT; de Groot, Rens R; Xiang, Yaozu Y; Luken, Brenda M BM; Lane, David A DA
Publication Date: 2011-09-22
Variant appearance in text: VWF: Met1606Leu
PubMed Link:
21715306
Variant Present in the following documents:
Main text
View BVdb publication page
The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity.
Blood
de Groot, Rens R; Lane, David A DA; Crawley, James T B JT
Publication Date: 2010-10-21
Variant appearance in text: VWF: M1606L
PubMed Link:
20647566
Variant Present in the following documents:
Main text
View BVdb publication page