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VWF c.4085A>C ;(p.K1362T)
Variant ID: 12-6128499-T-G
NM_000552.3(
VWF
):c.4085A>C;(p.K1362T)
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:
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: VWF: K1362T
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06
Variant appearance in text: VWF: K1362T
PubMed Link:
19665675
Variant Present in the following documents:
Main text
View BVdb publication page