VWF c.4849A>G ;(p.K1617E)

Variant ID: 12-6127735-T-C

NM_000552.3(VWF):c.4849A>G;(p.K1617E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Crystal structure and substrate-induced activation of ADAMTS13.

Nature Communications
Petri, Anastasis A; Kim, Hyo Jung HJ; Xu, Yaoxian Y; de Groot, Rens R; Li, Chan C; Vandenbulcke, Aline A; Vanhoorelbeke, Karen K; Emsley, Jonas J; Crawley, James T B JTB
Publication Date: 2019-08-22

Variant appearance in text: VWF: K1617E
PubMed Link: 31439947
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11474.pdf
View BVdb publication page