Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.P765L

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.P765L
c.2294C>T
Surrounding Variants
1 paper
NM_001135924.3
p.L775F
c.2323C>T
1 paper
NM_001135924.3
p.N754K
c.2262C>G
1 paper
NM_001135924.3
p.N754K
c.2262C>A
1 paper
NM_001135924.3
p.Y777S
c.2330A>C
1 paper
NM_001135924.3
p.R752L
c.2255G>T
1 paper
NM_001135924.3
p.R752W
c.2254C>T
1 paper
NM_001135924.3
p.F792L
c.2374T>C
1 paper
NM_001135924.3
p.F792L
c.2376C>G
1 paper
NM_001135924.3
p.F792L
c.2376C>A
1 paper
NM_001135924.3
p.T797N
c.2390C>A
2 papers
NM_001135924.3
p.Y804H
c.2410T>C
1 paper
NM_001135924.3
p.Q811H
c.2433G>T
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