Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.F1485C

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
3 papers
NM_001135924.3
p.F1485C
c.4454T>G
Surrounding Variants
1 paper
NM_001135924.3
p.G1479E
c.4436G>A
1 paper
NM_001135924.3
p.R1477C
c.4429C>T
2 papers
NM_001135924.3
p.P1461L
c.4382C>T
1 paper
NM_001135924.3
p.H1459N
c.4375C>A
1 paper
NM_001135924.3
p.T1493M
c.4478C>T
1 paper
NM_001135924.3
p.G1502V
c.4505G>T
1 paper
NM_001135924.3
p.N1528N
c.4584C>T
1 paper
NM_001135924.3
p.G1530D
c.4589G>A
1 paper
NM_001135924.3
p.E1531K
c.4591G>A
1 paper
NM_001135924.3
p.A1534V
c.4601C>T
1 paper
NM_001135924.3
p.R1548W
c.4642C>T
1 paper
NM_001135924.3
p.C1453W
c.4359T>G
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