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VWF c.8402C>A ;(p.A2801D)
Variant ID: 12-6058221-G-T
NM_000552.3(
VWF
):c.8402C>A;(p.A2801D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Highly reinforced structure of a C-terminal dimerization domain in von Willebrand factor.
Blood
Zhou, Yan-Feng YF; Springer, Timothy A TA
Publication Date: 2014-03-20
Variant appearance in text: VWF: A2801D
PubMed Link:
24394662
Variant Present in the following documents:
Main text
View BVdb publication page
The molecular genetics of von Willebrand disease.
Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Berber, Ergül E
Publication Date: 2012-12
Variant appearance in text: VWF: A2801D
PubMed Link:
24385719
Variant Present in the following documents:
TJH-29-313.pdf
View BVdb publication page
Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
Plos One
Dong, Jing J; Zhao, Xiaojuan X; Shi, Sensen S; Ma, Zhenni Z; Liu, Meng M; Wu, Qingyu Q; Ruan, Changgeng C; Dong, Ningzheng N
Publication Date: 2012
Variant appearance in text: VWF: A2801D
PubMed Link:
22479377
Variant Present in the following documents:
pone.0033263.pdf
View BVdb publication page