Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.F911L

VWDE

133 papers

Pfam Domains

D8C_UMODaa 64–157UCSCUromodulin-like, D8C domain
Ig_VWDEaa 186–290UCSCVWDE-like, immunoglobulin domain
VWDaa 425–582UCSCvon Willebrand factor type D domain
Vwdeaa 796–885UCSCVwde-like domain

Gene Aliases

HGNC Name

von Willebrand factor D and EGF domains

HGNC Alias Symbol

FLJ14712

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135924.3
p.F911L
c.2731T>C
Surrounding Variants
1 paper
NM_001135924.3
p.F911L
c.2733T>G
1 paper
NM_001135924.3
p.F911L
c.2733T>A
1 paper
NM_001135924.3
p.Y920C
c.2759A>G
1 paper
NM_001135924.3
p.L893S
c.2678T>C
1 paper
NM_001135924.3
p.N892T
c.2675A>C
3 papers
NM_001135924.3
p.C890F
c.2669G>T
3 papers
NM_001135924.3
p.E869K
c.2605G>A
1 paper
NM_001135924.3
p.A853G
c.2558C>G
1 paper
NM_001135924.3
p.Q811H
c.2433G>T
1 paper
NM_001135924.3
p.Q811H
c.2433G>C
2 papers
NM_001135924.3
p.Y804H
c.2410T>C
1 paper
NM_001135924.3
p.T797N
c.2390C>A
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