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VWF c.469A>G ;(p.K157E)
Variant ID: 12-6219603-T-C
NM_000552.3(
VWF
):c.469A>G;(p.K157E)
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:
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: VWF: K157E
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page
Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion.
Journal Of Hematology & Oncology
Yin, Jie J; Ma, Zhenni Z; Su, Jian J; Wang, Jiong-Wei JW; Zhao, Xiaojuan X; Ling, Jing J; Bai, Xia X; Ouyang, Wanyan W; Wang, Zhaoyue Z; Yu, Ziqiang Z; Ruan, Changgeng C
Publication Date: 2015-06-20
Variant appearance in text: VWF: Lys157Glu
PubMed Link:
26088471
Variant Present in the following documents:
Main text
13045_2015_Article_166.pdf
View BVdb publication page