Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.Y671C

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.Y671C
c.2012A>G
Surrounding Variants
1 paper
NM_001135924.3
p.S669F
c.2006C>T
1 paper
NM_001135924.3
p.V667I
c.1999G>A
1 paper
NM_001135924.3
p.I662L
c.1984A>T
1 paper
NM_001135924.3
p.I662L
c.1984A>C
1 paper
NM_001135924.3
p.L694S
c.2081T>C
1 paper
NM_001135924.3
p.R643*
c.1927C>T
1 paper
NM_001135924.3
p.K700fs
c.2098_2099fs
1 paper
NM_001135924.3
p.K700delFs
c.2100delT
1 paper
NM_001135924.3
p.G708S
c.2122G>A
1 paper
NM_001135924.3
p.K713delins
c.2138delinsCTTTTCTTGG
1 paper
NM_001135924.3
p.Y622S
c.1865A>C
1 paper
NM_001135924.3
p.V612F
c.1834G>T
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