Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.G1009R

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
2 papers
NM_001135924.3
p.G1009R
c.3025G>A
Surrounding Variants
2 papers
NM_001135924.3
p.G1009R
c.3025G>C
1 paper
NM_001135924.3
p.G1009E
c.3026G>A
1 paper
NM_001135924.3
p.W1015*
c.3044G>A
1 paper
NM_001135924.3
p.W1015*
c.3045G>A
1 paper
NM_001135924.3
p.K1018_V1019Splc
c.3054+2T>C
1 paper
NM_001135924.3
p.H985Q
c.2955C>A
2 papers
NM_001135924.3
p.N1028K
c.3084T>G
2 papers
NM_001135924.3
p.N1028K
c.3084T>A
1 paper
NM_001135924.3
p.P1029P
c.3087C>A
1 paper
NM_001135924.3
p.T1032M
c.3095C>T
1 paper
NM_001135924.3
p.C1039F
c.3116G>T
3 papers
NM_001135924.3
p.C1050Y
c.3149G>A
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