Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.S605T

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.S605T
c.1814G>C
Surrounding Variants
1 paper
NM_001135924.3
p.V612F
c.1834G>T
1 paper
NM_001135924.3
p.Y622S
c.1865A>C
1 paper
NM_001135924.3
p.R643*
c.1927C>T
1 paper
NM_001135924.3
p.R599Splc
c.1796+25G>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.V667I
c.1999G>A
1 paper
NM_001135924.3
p.S669F
c.2006C>T
1 paper
NM_001135924.3
p.Y671C
c.2012A>G
1 paper
NM_001135924.3
p.N587S
c.1760A>G
1 paper
NM_001135924.3
p.Q586Fs
c.1756delinsACFs
1 paper
NM_001135924.3
p.I584V
c.1750A>G
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