Varaico: Literature-Extracted Genetic Variants

Gene:VWDE
Variant:p.G1186G

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.G1186G
c.3558T>C
Surrounding Variants
1 paper
NM_001135924.3
p.V1190V
c.3570A>G
1 paper
NM_001135924.3
p.V1178L
c.3532G>T
1 paper
NM_001135924.3
p.V1178L
c.3532G>C
1 paper
NM_001135924.3
p.V1176L
c.3526G>T
1 paper
NM_001135924.3
p.V1176L
c.3526G>C
1 paper
NM_001135924.3
p.E1175_V1176Splc
c.3526-4G>T
1 paper
NM_001135924.3
p.H1211N
c.3631C>A
1 paper
NM_001135924.3
p.R1171K
c.3512G>A
1 paper
NM_001135924.3
p.V1160L
c.3478G>T
1 paper
NM_001135924.3
p.V1160L
c.3478G>C
1 paper
NM_001135924.3
p.I1158F
c.3472A>T
1 paper
NM_001135924.3
p.D1132G
c.3395A>G
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